13,842 results match your criteria Pediatrics Inborn Errors of Metabolism


Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.

Hum Mutat 2020 Jun 24. Epub 2020 Jun 24.

Institute of Human Genetics, University Hospital Magdeburg, Germany.

Serine biosynthesis disorders comprise a spectrum of very rare autosomal recessive inborn errors of metabolism with wide phenotypic variability. Neu-Laxova syndrome represents the most severe expression and is characterized by multiple congenital anomalies and pre- or perinatal lethality. Here we present the mutation spectrum and a detailed phenotypic analysis in 15 unrelated families with severe types of serine biosynthesis disorders. Read More

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http://dx.doi.org/10.1002/humu.24067DOI Listing
June 2020
5.144 Impact Factor

Oral health conditions in Wilson's disease patients: A clinical diagnostic study.

Eur J Paediatr Dent 2020 Jun;21(2):137-142

Department of Neuroscience, Reproductive and Oral Sciences, School of Paediatric Dentistry, University of Naples, Federico II, Naples, Italy.

Aim: The aims of this study were: To evaluate oral health conditions, oral health behaviours and eating habits in Wilson's disease (WD) patients; to assess the possible relationship between oral health status and long-term pharmacological therapies undertaken.

Methods: Sixty WD patients were selected and their data were compared to those of an age-matched control group of 62 subjects. Clinical examinations were carried out and a questionnaire on oral health behaviours and eating habits was submitted to both groups. Read More

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http://dx.doi.org/10.23804/ejpd.2020.21.02.08DOI Listing

Continuous renal replacement therapy and transplant-free survival in acute liver failure: protocol for a systematic review and meta-analysis.

Syst Rev 2020 Jun 16;9(1):143. Epub 2020 Jun 16.

Department of Critical Care Medicine, University of Alberta, 2-124 Clinical Sciences Building, 8440 112th St NW, Edmonton, AB, T6G 2B7, Canada.

Background: Acute liver failure is a rare syndrome with significant morbidity and mortality, particularly in absence of transplantation as a rescue therapy. An important mechanism contributing to mortality is hyperammonemia which drives cerebral edema and raised intracranial pressure. Multiple therapies for managing hyperammonemia have been trialed. Read More

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http://dx.doi.org/10.1186/s13643-020-01405-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7296967PMC

Myelin and Lipid Composition of the Corpus Callosum in Mucopolysaccharidosis Type I Mice.

Lipids 2020 Jun 14. Epub 2020 Jun 14.

Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, 1124 W. Carson Street, Torrance, CA, 90502, USA.

Mucopolysaccharidosis type I (MPS I) is a lysosomal disease with progressive central nervous system involvement. This study examined the lipid, cholesterol, and myelin basic protein composition of white matter in the corpus callosum of MPS I mice. We studied 50 week-old, male MPS I mice and littermate, heterozygote controls (n = 12 per group). Read More

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http://dx.doi.org/10.1002/lipd.12261DOI Listing

Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review.

Acta Biochim Pol 2020 Jun;67(2):263-266

Department of Clinical Genetics, Medical College, University of Rzeszów, Rzeszów, Poland.

3-methylglutaconic aciduria includes a heterogeneous group of inborn errors of metabolism. The disease may have various clinical presentations, as can duplication 5q. We present the case of a 13-year-old boy with 3-methylglutaconic aciduria and duplication 5q. Read More

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http://dx.doi.org/10.18388/abp.2020_5355DOI Listing

Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria.

Oxf Med Case Reports 2020 Apr 23;2020(4):omaa031. Epub 2020 May 23.

Professor of Inborn Errors of Metabolism, Pediatrics Department, Damascus University, Damascus, Syria.

Warburg Micro syndrome is a rare autosomal recessive disease due to mutation in the RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 genes. It is commonly seen in consanguineous marriages, characterized by optic (microcornea, microphthalmia, congenital cataracts), neurologic )microcephaly, corpus callosum hypoplasia, severe mental retardation( and hypogonadism; some non-typical findings could be present (cardiomyopathy, peripheral neuropathy). We report a novel homozygous mutation in the RAB3GAP1 gene in a 7-month-old boy from healthy nonconsanguineous parents from the same village in Syria, with bilateral congenital cataracts, hypogonadism, muscular hypotonia and severe developmental delay. Read More

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http://dx.doi.org/10.1093/omcr/omaa031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7243722PMC

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH) deficiencies.

Orphanet J Rare Dis 2020 May 26;15(1):126. Epub 2020 May 26.

Division of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany.

Background: Tetrahydrobiopterin (BH) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH deficiencies, apart from autosomal dominant guanosine triphosphate cyclohydrolase I deficiency and sepiapterin reductase deficiency. Early supplementation of neurotransmitter precursors and where appropriate, treatment of HPA results in significant improvement of motor and cognitive function. Read More

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http://dx.doi.org/10.1186/s13023-020-01379-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251883PMC

Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations.

J Pediatr Endocrinol Metab 2020 May 24;33(6):721-728. Epub 2020 May 24.

Hacettepe University İhsan Doğramacı Children's Hospital, Ankara, Turkey.

Objectives Urea cycle disorders (UCDs) are rare hereditary diseases. This study was conducted to help identify the characteristics of UCDs in Turkey. Methods The primary outcome was to determine patient characteristics. Read More

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http://dx.doi.org/10.1515/jpem-2019-0413DOI Listing

Role of mitochondrial acyl-CoA dehydrogenases in the metabolism of dicarboxylic fatty acids.

Biochem Biophys Res Commun 2020 Jun 29;527(1):162-166. Epub 2020 Apr 29.

Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15224, USA. Electronic address:

Dicarboxylic fatty acids, taken as a nutritional supplement or produced endogenously via omega oxidation of monocarboxylic fatty acids, may have therapeutic potential for rare inborn errors of metabolism as well as common metabolic diseases such as type 2 diabetes. Breakdown of dicarboxylic acids yields acetyl-CoA and succinyl-CoA as products, the latter of which is anaplerotic for the TCA cycle. However, little is known about the metabolic pathways responsible for degradation of dicarboxylic acids. Read More

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http://dx.doi.org/10.1016/j.bbrc.2020.04.105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248122PMC

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.

J Inherit Metab Dis 2020 May 17. Epub 2020 May 17.

Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.

Inherited cutis laxa, or inelastic, sagging skin is a genetic condition of premature and generalised connective tissue ageing, affecting various elastic components of the extracellular matrix. Several cutis laxa syndromes are inborn errors of metabolism and lead to severe neurological symptoms. In a patient with cutis laxa, a choreoathetoid movement disorder, dysmorphic features and intellectual disability we performed exome sequencing to elucidate the underlying genetic defect. Read More

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http://dx.doi.org/10.1002/jimd.12255DOI Listing
May 2020
3.365 Impact Factor

A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.

J Hum Genet 2020 May 14. Epub 2020 May 14.

Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.

Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies with lack of myelination of the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices (MIM:616647). ITPase plays an important role in purine metabolism. Read More

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http://dx.doi.org/10.1038/s10038-020-0765-3DOI Listing

Liver transplantation as a rescue therapy for severe neurologic forms of Wilson disease.

Neurology 2020 May 12;94(21):e2189-e2202. Epub 2020 May 12.

From the Neurology Department (A.P., P.C., J.-M.T., F.W.), AP-HP, Lariboisière University Hospital; National Reference Centre for Wilson's Disease (A.P., P.C., J.-M.T., F.W.), AP-HP, Lariboisière University Hospital, Paris; Hepatobiliary Centre (R.S., D.C., D.S., J.-C.D.-V.), DHU Hepatinov, UMR-1193, AP-HP, Paul Brousse Hospital, Villejuif; Service de Neurologie (W.G.M.), CHU Bordeaux; Université de Bordeaux (W.G.M.), Institut des Maladies Neurodégénératives, CNRS UMR 5393, France; Department of Medicine (W.G.M.), University of Otago and New Zealand Brain Research Institute (W.G.M.), Christchurch; Hepatology, Gastroenterology and Nutrition Department (A.-S.B., A.L.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon; National Reference Centre for Wilson's Disease (A.-S.B., E.B., C.L., L.L.-F., O.G., A.L.), Hospices Civils de Lyon; Neurology Department (E.B., C.L.), Hôpital Neurologique Pierre-Wertheimer, Hospices Civils de Lyon; CNRS (E.B., C.L.), UMR 5229, Institut des Sciences Cognitives Marc-Jeannerod, Bron; Faculté de Médecine Lyon Sud Charles-Mérieux (E.B., C.L., A.L.), Université Claude-Bernard Lyon 1; Neurology and Paediatrics Department (L.L.-F.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron; Hepatogastroenterology Department (O.G.), Edouard Herriot Hospital, Hospices Civils de Lyon; Internal Medicine Department (F.M.), National Reference Centre for Inborn Errors of Metabolism, Université François Rabelais; Neurology Department (J.B.), CHRU Bretonneau, Tours; Surgery, Oncology and Liver Transplantation Department (E.S.), CHRU Tours; Hepatology and Gastroenterology Department (C.V.) and Surgery and Liver Transplantation Department (B.H.), CHU Besançon; Neurology and Paediatrics Department (C. Bellesme), AP-HP, Bicêtre University Hospital, Kremlin-Bicetre; Pediatric Hepatology and Pediatric Liver Transplantation Unit (U.H) and National Reference Centre for Rare Pediatric Liver Diseases (U.H), Bicêtre University Hospital, Faculty of Medicine Paris-Sud, University of Paris-Sud 11, DHU Hepatinov, AP-HP, Le Kremlin Bicêtre; INSERM (D.H.), UMR-S1174, Hepatinov, University of Paris Sud 11, Orsay; Hepatology and Gastroenterology Department (C. Bureau) and Neurology Department (F.O.-M.), CHU Toulouse; Centre D'investigation de la Fibrose Hépatique (V.L.), Hôpital Haut-Lévêque, CHU Bordeaux; and INSERM U1053 (V.d.L.), Université de Bordeaux, France. A. Poujois is currently at Neurology Department, Rothschild Foundation Hospital, and National Reference Centre for Wilson's Disease, Rothschild Foundation Hospital, Paris.

Objective: To evaluate the effect of liver transplantation (LT) in patients with Wilson disease (WD) with severe neurologic worsening resistant to active chelation.

Methods: French patients with WD who underwent LT for pure neurologic indication were retrospectively studied. Before LT and at the last follow-up, neurologic impairment was evaluated with the Unified Wilson's Disease Rating Scale (UWDRS) score, disability with the modified Rankin Scale (mRS) score, and hepatic function with the Model for End-stage Liver Disease score, together with the presence of a Kayser-Fleischer ring (KFR), brain MRI scores, and copper balance. Read More

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http://dx.doi.org/10.1212/WNL.0000000000009474DOI Listing

Opportunities and challenges for antisense oligonucleotide therapies.

J Inherit Metab Dis 2020 May 11. Epub 2020 May 11.

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Antisense oligonucleotide (AON) therapies involve short strands of modified nucleotides that target RNA in a sequence-specific manner, inducing targeted protein knockdown or restoration. Currently, 10 AON therapies have been approved in the United States and Europe. Nucleotides are chemically modified to protect AONs from degradation, enhance bioavailability and increase RNA affinity. Read More

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http://dx.doi.org/10.1002/jimd.12251DOI Listing

A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease.

J Clin Med 2020 May 2;9(5). Epub 2020 May 2.

Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France.

: Fabry disease (FD) is an X-linked progressive lysosomal disease (LD) due to glycosphingolipid metabolism impairment. Currently, plasmatic globotriaosylsphingosine (LysoGb3) is used for disease diagnosis and monitoring. However, this biomarker is inconstantly increased in mild forms and in some female patients. Read More

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http://dx.doi.org/10.3390/jcm9051325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7290805PMC

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.

J Inherit Metab Dis 2020 May 5. Epub 2020 May 5.

AADC Research Trust, Caterham, UK.

Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurodevelopmental disorder characterized by impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin, leading to a complex syndrome of motor, behavioral, and autonomic symptoms. This retrospective study assessed the symptoms and developmental outcome of a large international cohort of patients with AADCD via physician and/or caregiver responses to a detailed, standardized questionnaire. Sixty-three patients (60% female; ages 6 months-36 years, median 7 years; 58 living) from 23 individual countries participated. Read More

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http://dx.doi.org/10.1002/jimd.12247DOI Listing

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.

Orphanet J Rare Dis 2020 Apr 28;15(1):106. Epub 2020 Apr 28.

Research Group Inborn Errors of Metabolism, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein-Sieg University of Applied Sciences, von-Liebig-Str. 20, 53359, Rheinbach, Germany.

Background: 2-methylacetoacetyl-coenzyme A thiolase deficiency (MATD; deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2/ "beta-ketothiolase") is an autosomal recessive disorder of ketone body utilization and isoleucine degradation due to mutations in ACAT1.

Methods: We performed a systematic literature search for all available clinical descriptions of patients with MATD. Two hundred forty-four patients were identified and included in this analysis. Read More

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http://dx.doi.org/10.1186/s13023-020-01357-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187484PMC

Social media, alternative metrics and inborn errors of metabolism.

J Inherit Metab Dis 2020 May 22;43(3):383-384. Epub 2020 Apr 22.

Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1002/jimd.12239DOI Listing

LC-MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies.

J Inherit Metab Dis 2020 Apr 21. Epub 2020 Apr 21.

Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Zurich, Switzerland.

Rapid diagnosis and early specific treatment of metabolic epilepsies due to inborn errors of metabolism (IEMs) is crucial to avoid irreversible sequalae. Nowadays, besides the profile analysis of amino- and organic acids, a range of additional targeted assays is used for the selective screening of those diseases. This strategy can lead to long turn-around times, repeated sampling and diagnostic delays. Read More

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http://dx.doi.org/10.1002/jimd.12244DOI Listing

Autosomal dominant transmission of transient neonatal lactic acidosis: a case report.

BMC Pediatr 2020 Apr 20;20(1):177. Epub 2020 Apr 20.

Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.

Background: Lactic acidosis is a common finding in neonates, in whom mitochondrial dysfunction is often secondary to tissue hypoperfusion, respiratory failure, and/or sepsis. Primary (non-physiological) lactic acidosis is comparatively rare, and suggests the presence of an inborn error of mitochondrial energy metabolism. Optimal medical management and accurate prognostication requires the correct determination of the etiology of lactic acidosis in a given patient. Read More

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http://dx.doi.org/10.1186/s12887-020-02085-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168962PMC

Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B).

Gene 2020 Jul 18;747:144683. Epub 2020 Apr 18.

Princess Haya Biotechnology Center, Jordan University of Science and Technology, Irbid 22110, Jordan.

Acid sphingomyelinase (ASM) deficiency (ASMD) is a spectrum that includes Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). ASMD is characterized by intracellular accumulation of unesterified cholesterol and gangliosides within the endosomal-lysosomal system. It is caused by different mutations in SMPD1 gene that result in reduction or complete absence of acid sphingomyelinase activity in the cells. Read More

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http://dx.doi.org/10.1016/j.gene.2020.144683DOI Listing

ECMO as a Platform for Rapid Ammonia Removal in a Neonate with Multienzyme Urea Cycle Disorder.

J Extra Corpor Technol 2020 Mar;52(1):58-62

Department of Pediatrics, St. Christopher's Hospital for Children, Philadelphia, Pennsylvania.

Since the initial deployment of neonatal extracorporeal membrane oxygenation (ECMO) for respiratory failure, the use of ECMO in this population has diversified. We present a term female infant with carbamoyl phosphate synthetase 1 and partial N-acetylglutamate synthase deficiencies who developed severe hyperammonemia refractory to medical management requiring venoarterial ECMO-driven continuous veno-venous hemodiafiltration for ammonia detoxification. This case report illustrates a subpopulation where neonatal ECMO may improve survival and neurodevelopmental outcomes. Read More

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http://dx.doi.org/10.1182/JECT-1900032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138117PMC

Response to report of rickets in twins occurring after maternal bisphosphonate exposure.

Arch Pediatr 2020 05 9;27(4):233-234. Epub 2020 Apr 9.

Department of Pediatrics (Endocrinology), Yale University School of Medicine, P.O Box 208064, 06520-8064 New Haven, CT, USA. Electronic address:

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http://dx.doi.org/10.1016/j.arcped.2020.03.006DOI Listing

A New Mutation in Gene Causing Hunter Syndrome: A Case Report.

Front Genet 2019 18;10:1383. Epub 2020 Mar 18.

Center for Research and Molecular Diagnosis of Genetic Diseases, Department of Biophysics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.

Rationale: Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). The clinical manifestations of this disease are severe skeletal deformities, airway obstruction, cardiomyopathy, and neurologic deterioration.

Patient: The patient was 5 years and 6 months boy, with developmental delay, hearing loss, hepatosplenomegaly, and skeletal dysplasia. Read More

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http://dx.doi.org/10.3389/fgene.2019.01383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093562PMC

Brain Circuit Alterations and Cognitive Disability in Late-Onset Cobalamin D Disorder.

J Clin Med 2020 Apr 2;9(4). Epub 2020 Apr 2.

Computational Neuroimaging Group, Biocruces Bizkaia Health Research Institute, 48903 Barakaldo, Spain.

Neuroimaging studies describing brain circuits' alterations in cobalamin (vitamin B12)-deficient patients are limited and have not been carried out in patients with inborn errors of cobalamin metabolism. The objective of this study was to assess brain functionality and brain circuit alterations in a patient with an ultra-rare inborn error of cobalamin metabolism, methylmalonic aciduria, and homocystinuria due to cobalamin D disease, as compared with his twin sister as a healthy control (HC). We acquired magnetic resonance imaging (including structural, functional, and diffusion images) to calculate brain circuit abnormalities and combined these results with the scores after a comprehensive neuropsychological evaluation. Read More

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http://dx.doi.org/10.3390/jcm9040990DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231091PMC

Effect of enteral erythropoietin on feeding-related complications in preterm newborns: A pilot randomized controlled study.

Arab J Gastroenterol 2020 Mar 30;21(1):37-42. Epub 2020 Mar 30.

Department of Paediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.

Background And Study Aims: To evaluate the effects of enteral administration of recombinant human erythropoietin (rhEPO) on feeding-related complications in preterm infants.

Patients And Methods: This double-blind, randomized controlled pilot study enrolled 120 preterm infants born ≤ 32 weeks' gestation who were admitted to the neonatal intensive care unit in a tertiary hospital; 60 patients randomly received recombinant human erythropoietin while the other 60 received placebo. Newborns who underwent cardiopulmonary resuscitation, infants with genetic syndromes, infants with inborn errors of metabolism, infants with major congenital or acquired gastrointestinal tract malformations, infants with previous use of parenteral growth factors such as recombinant human erythropoietin and granulocyte-macrophage colony-stimuating factor (GM-CSF) and infants previously treated with intravenous immunoglobulin were excluded. Read More

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http://dx.doi.org/10.1016/j.ajg.2020.01.001DOI Listing

A retrospective review of outcomes in the treatment of hyperammonemia with renal replacement therapy due to inborn errors of metabolism.

Pediatr Nephrol 2020 Mar 30. Epub 2020 Mar 30.

Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan, D5240 Medical Professional Building, 1500 E. Medical Center Dr, Ann Arbor, MI, 48109, USA.

Background: Outcomes for severe hyperammonemia treated with renal replacement therapy (RRT) reported in the literature vary widely. This has created differing recommendations regarding when RRT is beneficial for hyperammonemic patients.

Methods: To evaluate our institution's experience with RRT in pediatric patients with inborn errors of metabolism (IEMs) and potential prognostic indicators of a better or worse outcome, we performed a retrospective chart review of patients who received RRT for hyperammonemia. Read More

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http://dx.doi.org/10.1007/s00467-020-04533-3DOI Listing

The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.

Hum Genet 2020 May 26;139(5):657-673. Epub 2020 Mar 26.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

GM1-gangliosidosis, a lysosomal storage disorder, is associated with ~ 161 missense variants in the GLB1 gene. Affected patients present with β-galactosidase (β-Gal) deficiency in lysosomes. Loss of function in ER-retained misfolded enzymes with missense variants is often due to subcellular mislocalization. Read More

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http://dx.doi.org/10.1007/s00439-020-02153-3DOI Listing
May 2020
4.824 Impact Factor

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Am J Hum Genet 2020 04 19;106(4):570-583. Epub 2020 Mar 19.

Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Program in Development, Disease Models, and Therapeutics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX 77030, USA. Electronic address:

EIF2AK1 and EIF2AK2 encode members of the eukaryotic translation initiation factor 2 alpha kinase (EIF2AK) family that inhibits protein synthesis in response to physiologic stress conditions. EIF2AK2 is also involved in innate immune response and the regulation of signal transduction, apoptosis, cell proliferation, and differentiation. Despite these findings, human disorders associated with deleterious variants in EIF2AK1 and EIF2AK2 have not been reported. Read More

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http://dx.doi.org/10.1016/j.ajhg.2020.02.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118694PMC

Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation.

Mol Genet Metab Rep 2020 Jun 17;23:100579. Epub 2020 Mar 17.

Reference Centre for Inborn Errors of Metabolism, Robert-Debré University Hospital, APHP, Paris 75019, France.

Nitrous oxide (NO) is widely used as an anesthetic or an analgesic. NO prolonged and recurrent administration is known to affect vitamin B12 metabolism with subsequent clinical consequences. We report herein the case of a 13-year-old girl with sickle cell disease exhibiting severe neurological and biochemical signs of functional vitamin B12 deficiency due to prolonged and repeated exposure to NO. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2020.100579DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078522PMC

Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia.

Cochrane Database Syst Rev 2020 03 19;3:CD012517. Epub 2020 Mar 19.

University of Liverpool, Alder Hey Children's NHS Foundation Trust, Department of Women's and Children's Health, Eaton Road, Liverpool, Merseyside, UK, L12 2AP.

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition which leads to glucocorticoid deficiency and is the most common cause of adrenal insufficiency in children. In over 90% of cases, 21-hydroxylase enzyme deficiency is found which is caused by mutations in the 21-hydroxylase gene. Managing individuals with CAH due to 21-hydroxylase deficiency involves replacing glucocorticoids with oral glucocorticoids (including prednisolone and hydrocortisone), suppressing adrenocorticotrophic hormones and replacing mineralocorticoids to prevent salt wasting. Read More

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http://dx.doi.org/10.1002/14651858.CD012517.pub2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7081382PMC

Impact of enteral arginine supplementation on lysine metabolism in humans: A proof-of-concept for lysine-related inborn errors of metabolism.

J Inherit Metab Dis 2020 Mar 18. Epub 2020 Mar 18.

BC Children's Hospital Research Institute, BC Children's Hospital, Vancouver, British Columbia, Canada.

Patients with lysine-related inborn errors of metabolism (pyridoxine-dependent epilepsy [PDE] and glutaric aciduria type 1 [GA1]), follow a lysine-restricted diet with arginine-fortified lysine-free amino acid formula and additional oral arginine supplementation as a newer therapy for PDE. The rationale of arginine supplementation is based on arginine's ability to compete with lysine transport across cell membranes via shared transporter systems. Adequate doses of arginine required to competitively inhibit enteral lysine uptake has not been studied in humans This proof-of-concept study investigates the effect of incremental enteral arginine doses on whole-body lysine oxidation using an in vivo stable isotope tracer, L-[1- C] lysine, in healthy humans. Read More

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http://dx.doi.org/10.1002/jimd.12233DOI Listing

Metabolic Disorders Presenting with Seizures in the Neonatal Period.

Semin Neurol 2020 Apr 17;40(2):219-235. Epub 2020 Mar 17.

Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, California.

Metabolic disorders represent rare but often treatable causes of seizures and epilepsy of neonatal onset. As seizures are relatively common in the neonatal period, systemic clues to a specific diagnosis may be lacking or shrouded by acute illness. An important role of the consulting pediatric neurologist is to identify neonates with a possible metabolic or otherwise genetic diagnosis. Read More

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http://dx.doi.org/10.1055/s-0040-1705119DOI Listing

Coexistence of guanidinoacetate methyltransferase (GAMT) deficiency and neuroleptic malignant syndrome without creatine kinase elevation.

Brain Dev 2020 May 12;42(5):418-420. Epub 2020 Mar 12.

Karadeniz Technical University School of Medicine, Department of Pediatric Neurology, Ankara, Turkey.

We describe the first child with guanidinoacetate methyltransferase (GAMT) deficiency who developed neuroleptic malignant syndrome (NMS) after the treatment of risperidone without elevated creatine kinase (CK) levels. The patient presented with lethargy, hyperthermia, generalized tremor and rigidity with normal serum CK levels. After cessation of risperidone and adding clonezepam to the supportive treatment, symptoms of NMS were ameliorated. Read More

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http://dx.doi.org/10.1016/j.braindev.2020.02.001DOI Listing

Pre-school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched-comparison study.

JIMD Rep 2020 Mar 27;52(1):43-54. Epub 2020 Jan 27.

Department of Pediatrics University of Alberta Edmonton Alberta Canada.

Background: Urea cycle disorders (UCD) and organic acid disorders classically present in the neonatal period. In those who survive, developmental delay is common with continued risk of regression. Liver transplantation improves the biochemical abnormality and patient survival is good. Read More

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http://dx.doi.org/10.1002/jmd2.12095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052695PMC

[Hemoglobinuria in children hospitalized in Ouagadougou: short term inpatient care and prognosis].

Pan Afr Med J 2019 26;34:165. Epub 2019 Nov 26.

Service de Pédiatrie Médicale, Centre Hospitalier Universitaire Pédiatrique Charles-de-Gaulle, Ouagadougou, Burkina Faso.

Introduction: The purpose of this study was to analyze the epidemiological, diagnostic, therapeutic and evolutionary features of hemoglobinuria in children hospitalized in the Pediatric University Hospital Charles de Gaulle, Ouagadougou.

Methods: We conducted a cross-sectional descriptive study over the period 01 July-31 December 2014. All children aged 0-15 years hospitalized in the Department of Medical Pediatrics of the Pediatric University Hospital Charles de Gaulle and diagnosed with macroscopic hemoglobinuria during the study period were enrolled. Read More

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http://dx.doi.org/10.11604/pamj.2019.34.165.14729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7046116PMC

Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.

J Pediatr 2020 May 4;220:184-192.e6. Epub 2020 Mar 4.

Department of Epidemiology and Health Economics, AP-HM/EA 3279 CEReSS (Centre d'Etude et de Recherche sur les Services de Santé et la Qualité de vie), Aix-Marseille Univ, Marseille, France.

Objective: To describe the health status of young patients affected by inborn errors of metabolism that require adherence to a restricted diet (IEMRDs) and to describe and compare their self- and proxy (parent)-reported quality of life (QoL) with reference values.

Study Design: A cross-sectional study was conducted in 2015-2017 in patients affected by IEMRDs (except phenylketonuria) younger than 18 years. Data collection was based on medical records, clinical examinations, parents' and children's interviews, and self-reported questionnaires. Read More

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http://dx.doi.org/10.1016/j.jpeds.2020.01.059DOI Listing

Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency.

J Pediatr Endocrinol Metab 2020 Apr;33(4):569-574

Behçet Uz Children Training & Research Hospital, Neonatology Department, Izmir, Turkey.

Pyruvate carboxylase (PC) deficiency is a rare autosomal recessive disease and provides clinics in three essential phenotypes. Type B PC deficiency is characterized by lactic acidosis and hyperammonemia. We report a Turkish patient who was diagnosed with type B PC deficiency. Read More

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http://dx.doi.org/10.1515/jpem-2019-0307DOI Listing

Altered Plasma Acylcarnitines and Amino Acids Profile in Spinocerebellar Ataxia Type 7.

Biomolecules 2020 Mar 3;10(3). Epub 2020 Mar 3.

Laboratory of Genomic Medicine, Department of Genetics, National Rehabilitation Institute (INR-LGII), Mexico City 14389, Mexico.

Spinocerebellar ataxia type 7 (SCA7), a neurodegenerative disease characterized by cerebellar ataxia and retinal degeneration, is caused by an abnormal CAG repeat expansion in the gene coding region. The onset and severity of SCA7 are highly variable between patients, thus identification of sensitive biomarkers that accurately diagnose the disease and monitoring its progression are needed. With the aim of identified SCA7-specific metabolites with clinical relevance, we report for the first time, to the best of our knowledge, a metabolomics profiling of circulating acylcarnitines and amino acids in SCA7 patients. Read More

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http://dx.doi.org/10.3390/biom10030390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175318PMC

A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND).

Front Neurol 2019 18;10:1369. Epub 2020 Feb 18.

Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology and Metabolism, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, Netherlands.

Progressive intellectual and neurological deterioration (PIND) is a rare but severe childhood disorder characterized by loss of intellectual or developmental abilities, and requires quick diagnosis to ensure timely treatment to prevent possible irreversible neurological damage. Inborn errors of metabolism (IEMs) constitute a group of more than 1,000 monogenic conditions in which the impairment of a biochemical pathway is intrinsic to the pathophysiology of the disease, resulting in either accumulation of toxic metabolites and/or shortage of energy and building blocks for the cells. Many IEMs are amenable to treatment with the potential to improve outcomes. Read More

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http://dx.doi.org/10.3389/fneur.2019.01369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040240PMC
February 2020

Characterisation of peripheral bone mineral density in youth at risk of secondary osteoporosis - a preliminary insight.

J Musculoskelet Neuronal Interact 2020 Mar;20(1):27-52

School of Medical and Health Science, Edith Cowan University, Perth, W.A., Australia.

Objectives: To describe peripheral long bone material and structural differences in youth at risk of secondary osteoporosis across disease-specific profiles.

Methods: Upper- and lower limbs of children and adolescents were scanned at 4% distal and 66% mid-shaft sites using peripheral Quantitative Computed Tomography sub-categorised as (1) increased risk of secondary osteoporosis (neuromuscular disorders; chronic diseases; endocrine diseases; inborn errors of metabolism; iatrogenic conditions), (2) low motor competence and (3) non-affected controls.

Results: Children with disease-specific profiles showed a range of bone deficits compared to the control group with these predominantly indicated for neuromuscular disorders, chronic diseases and low motor competence. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7104582PMC

[Clinical practice guidelines for albinism].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Mar;37(3):252-257

Department of Birth Defect Genetics, Beijing Institute of Pediatrics; Center for Genetics and Birth Defect Prevention and Control, National Children's Medical Center; Beijing Children's Hospital Affiliated to Capital Medical University, Beijing 100045, China.

Albinism is an autosomal or X-linked recessive Mendelian trait in man, which mainly manifests as hypopigmentation and related lesions of eye, skin and hair. At least 18 genes have so far been identified as causative genes for albinism. The mutational spectrum is population-specific. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.03.005DOI Listing

Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations.

Mol Genet Metab 2020 05 21;130(1):1-6. Epub 2020 Feb 21.

Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany; Division of Metabolism, Children's Hospital, Zürich, Switzerland. Electronic address:

Psychiatric symptoms are common manifestations in many inborn errors of metabolism (IEMs), ranging from attention deficit, anxiety and mood and behavioral disorders to psychosis. Furthermore, IEMs represent a significant percentage of all autism cases. We reviewed and updated the list of metabolic disorders known to be associated with various psychiatric manifestations and found more than 100 relevant IEMs. Read More

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http://dx.doi.org/10.1016/j.ymgme.2020.02.007DOI Listing

A Review of Rare Disease Policies and Orphan Drug Reimbursement Systems in 12 Eurasian Countries.

Front Public Health 2019 28;7:416. Epub 2020 Jan 28.

Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, Warsaw, Poland.

Despite international initiatives on collaboration within the field of rare diseases, patient access to orphan medicinal products (OMPs) and healthcare services differ greatly between countries. This study aimed to create a comprehensive and in-depth overview of rare diseases policies and reimbursement of OMPs in a selection of 12 countries in the Western Eurasian region: Armenia, France, Germany, Kazakhstan, Latvia, The Netherlands, Poland, Romania, Russia, Turkey, Ukraine, and the United Kingdom. A systematic literature review was performed and an analysis of publicly available legislative and rare disease health policy data was undertaken in five focus areas: rare disease definition, newborn screening, registries, national plans, access to/reimbursement of OMPs. Read More

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http://dx.doi.org/10.3389/fpubh.2019.00416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6997877PMC
January 2020

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.

Genet Med 2020 Jun 27;22(6):1102-1107. Epub 2020 Feb 27.

Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.

Purpose: We studied galactose supplementation in SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG), caused by monoallelic pathogenic variants in SLC35A2 (Xp11.23), encoding the endoplasmic reticulum (ER) and Golgi UDP-galactose transporter. Patients present with epileptic encephalopathy, developmental disability, growth deficiency, and dysmorphism. Read More

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http://dx.doi.org/10.1038/s41436-020-0767-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275909PMC

[A case of brain liquefaction caused by biotinidase deficiency].

Zhonghua Er Ke Za Zhi 2020 Feb;58(2):150-151

Molecular Diagnostic Laboratory, Department of Medical Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2020.02.017DOI Listing
February 2020

Endothelial dysfunction in a child with Pearson marrow-pancreas syndrome managed with Descemet stripping automated endothelial keratoplasty using a suture pull-through technique.

Digit J Ophthalmol 2019 Apr 17;25(4):59-64. Epub 2019 Nov 17.

Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis.

A 4-year-old girl with a history of Pearson marrow-pancreas syndrome presenting with severe, progressive photophobia was found to have bilateral, diffuse corneal thickening and peripheral pigmentary retinopathy. She underwent Descemet stripping automated endothelial keratoplasty (DSAEK) surgery in both eyes using a modified suture pull-through technique. Postoperatively there was no evidence of cataract formation or graft detachment; her corneas thinned, and her photophobia improved dramatically. Read More

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http://dx.doi.org/10.5693/djo.02.2019.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7001650PMC

Use of complementary and alternative medicine in patients with inborn errors of metabolism: A single-center study.

JIMD Rep 2020 Jan 18;51(1):105-112. Epub 2019 Dec 18.

Department of Paediatrics Western University London Ontario Canada.

Background And Objectives: There is a paucity of information on the use of complementary and alternative medicine (CAM) in patients with inborn errors of metabolism (IEM). This study's objective was to evaluate the self-reported use and perceived effectiveness of CAM in adults and children with IEM.

Methods: Patients aged 0-70 years and caregivers seen at the London Health Sciences Centre Metabolic Clinic (London, Ontario, Canada) between July 2017 and August 2017 were recruited to complete a questionnaire regarding CAM use to help their IEM diagnosis and perceived effectiveness of these therapies. Read More

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http://dx.doi.org/10.1002/jmd2.12089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012736PMC
January 2020

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.

Orphanet J Rare Dis 2020 Feb 14;15(1):48. Epub 2020 Feb 14.

Research Group Inborn Errors of Metabolism, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein-Sieg University of Applied Sciences, von-Liebig-Str. 20, 53359, Rheinbach, Germany.

Background: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL.

Method: We performed a systematic literature search to identify all published cases. Two hundred eleven patients of whom relevant clinical data were available were included in this analysis. Read More

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http://dx.doi.org/10.1186/s13023-020-1319-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7023732PMC
February 2020