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    12256 results match your criteria Pediatrics Inborn Errors of Metabolism

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    Methyl-ketones in the scent glands of Opiliones: a chemical trait of cyphophthalmi retrieved in the dyspnoan .
    Chemoecology 2018 6;28(2):61-67. Epub 2018 Apr 6.
    1Institute of Biology, University Graz, Universitätsplatz 2, 8010 Graz, Austria.
    The homologous and phylogenetically old scent glands of harvestmen-also called defensive or repugnatorial glands-represent an ideal system for a model reconstruction of the evolutionary history of exocrine secretion chemistry ("phylogenetic chemosystematics"). While the secretions of Laniatores (mainly phenols, benzoquinones), Cyphophthalmi (naphthoquinones, chloro-naphthoquinones, methyl-ketones) and some Eupnoi (naphthoquinones, ethyl-ketones) are fairly well studied, one open question refers to the still largely enigmatic scent gland chemistry of representatives of the suborder Dyspnoi and the relation of dyspnoan chemistry to the remaining suborders. We here report on the secretion of a nemastomatid Dyspnoi, which is composed of straight-chain methyl-ketones (heptan-2-one, nonan-2-one, 6-tridecen-2-one, 8-tridecen-2-one), methyl-branched methyl-ketones (5-methyl-heptan-2-one, 6-methyl-nonan-2-one), naphthoquinones (1,4-naphthoquinone, 6-methyl-1,4-naphthoquinone) and chloro-naphthoquinones (4-chloro-1,2-naphthoquinone, 4-chloro-6-methyl-1,2-naphthoquinone). Read More

    Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome.
    Am J Med Genet A 2018 Apr 16. Epub 2018 Apr 16.
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
    Likely pathogenic variants in CD320 cause transcobalamin receptor defect, a recently discovered inborn errors of cobalamin metabolism. Only 12 cases have been reported to date. There are no long-term clinical and biochemical outcome reports since its first description. Read More

    Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders.
    J Clin Mov Disord 2018 6;5. Epub 2018 Apr 6.
    1Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
    Background: Diagnosis of less common young-onset movement disorders is often challenging, requiring a broad spectrum of skills of clinicians regarding phenotyping, normal and abnormal development and the wide range of possible acquired and genetic etiologies. This complexity often leads to considerable diagnostic delays, paralleled by uncertainty for patients and their families. Therefore, we hypothesized that these patients might benefit from a multidisciplinary approach. Read More

    Inborn Errors of Metabolism in the Emergency Department (Undiagnosed and Management of the Known).
    Emerg Med Clin North Am 2018 May;36(2):369-385
    Pediatric Emergence Medicine, Carolinas HealthCare System, 1000 Blythe Boulevard, 3rd Floor MEB, Charlotte, NC 28203, USA.
    An inborn error of metabolism should be considered in any neonate who presents to the emergency department in extremis and in any young child who presents with altered mental status and vomiting. In children with unknown diagnoses, it is crucial to draw the appropriate laboratory studies before the institution of therapy, although treatment needs rapid institution to mitigate neurologic damage and avoid worsening metabolic crisis. Although there are hundreds of individual genetic disorders, they are roughly placed into groups that present similarly. Read More

    The Frequency of Infective Endocarditis in Candida Bloodstream Infections: a Retrospective Study in a Child Hospital.
    Braz J Cardiovasc Surg 2018 Jan-Feb;33(1):54-58
    Department of Pediatric Infectious Diseases, Dr. Behçet Uz Children's Hospital, İzmir, Turkey.
    Introduction: Fungal endocarditis is reported less frequently than bacterial endocarditis, with an incidence of 0-12% of the total pediatric infective endocarditis.

    Objective: In this study, the incidence of infective endocarditis in Candida bloodstream infections in a tertiary hospital during the periods of 2007 and 2016 was reviewed.

    Methods: Patients with positive blood or catheter cultures in terms of Candida spp. Read More

    Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders.
    J Inherit Metab Dis 2018 Mar 28. Epub 2018 Mar 28.
    Division of Child Neurology and Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
    Introduction: Inborn errors of tetrahydrobiopterin (BH) biosynthesis or recycling are a group of very rare neurometabolic diseases. Following growing awareness and improved availability of drug treatment the number of patients with BH disorders reaching adulthood is constantly increasing. Pregnancy care of patients with these disorders is therefore a new challenge for clinicians. Read More

    Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.
    Am J Hum Genet 2018 Apr 22;102(4):676-684. Epub 2018 Mar 22.
    Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC H4A 3J1, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Canada; Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC H4A 3J1, Canada. Electronic address:
    Hypomyelinating leukodystrophies are genetic disorders characterized by insufficient myelin deposition during development. They are diagnosed on the basis of both clinical and MRI features followed by genetic confirmation. Here, we report on four unrelated affected individuals with hypomyelination and bi-allelic pathogenic variants in EPRS, the gene encoding cytoplasmic glutamyl-prolyl-aminoacyl-tRNA synthetase. Read More

    Pediatric endocrine and metabolic diseases and proteomics.
    J Proteomics 2018 Mar 18. Epub 2018 Mar 18.
    Proteomics Research Unit, Biomedical Research Foundation of the Academy of Athens, Athens, Greece.
    The principles of Predictive, Preventive and Personalized Medicine (PPPM) dictate the need to recognize individual susceptibility to disease in a timely fashion and to offer targeted preventive interventions and treatments. Proteomics is a state-of-the art technology- driven science aiming at expanding our understanding of the pathophysiologic mechanisms that underlie disease, but also at identifying accurate predictive, diagnostic and therapeutic biomarkers, that will eventually promote the implementation of PPPM. In this review, we summarize the wide spectrum of the applications of Mass Spectrometry-based proteomics in the various fields of Pediatric Endocrinology, including Inborn Errors of Metabolism, type 1 diabetes, Adrenal Disease, Metabolic Syndrome and Thyroid disease, ranging from neonatal screening to early recognition of specific at-risk populations for disease manifestations or complications in adult life and to monitoring of disease progression and response to treatment. Read More

    Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
    Genet Med 2018 Mar 15. Epub 2018 Mar 15.
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
    Disclaimer: These ACMG Standards are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards is voluntary and does not necessarily assure a successful medical outcome. These Standards should not be considered inclusive of all proper procedures and tests, or exclusive of others that are reasonably directed to obtaining the same results. Read More

    Benchmarking of Four Near Infrared Spectroscopy Devices for Long Time Use in Neonates.
    Klin Padiatr 2018 Mar 14. Epub 2018 Mar 14.
    Division of Neonatology, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
    Background: Using near-infrared spectroscopy (NIRS) mixed tissue saturation can be calculated by measuring the oxygen saturation of oxygenated and deoxygenated erythrocytes in the tissue. Quality of the calculated value is not only dependent on the exposure of the measured values in the calculation, but also on external factors such as artifacts. Main object of this study was to determine whether and how the measurement quality of different devices varies in their long-term use in premature infants. Read More

    Multiomics tools for the diagnosis and treatment of rare neurological disease.
    J Inherit Metab Dis 2018 Mar 13. Epub 2018 Mar 13.
    Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.
    Conventional workup of rare neurological disease is frequently hampered by diagnostic delay or lack of diagnosis. While biomarkers have been established for many neurometabolic disorders, improved methods are required for diagnosis of previously unidentified or underreported causes of rare neurological disease. This would result in a higher diagnostic yield and increased patient numbers required for interventional studies. Read More

    Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum.
    Case Rep Pediatr 2018 21;2018:4375434. Epub 2018 Jan 21.
    Reference Center for Inborn Errors of Metabolism (CREIM), Department of Pediatrics, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.
    Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease. Read More

    Pharmacokinetics and pharmacodynamics of PEGylated truncated human cystathionine beta-synthase for treatment of homocystinuria.
    Life Sci 2018 May 9;200:15-25. Epub 2018 Mar 9.
    Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA. Electronic address:
    Aims: PEGylated human truncated cystathionine beta-synthase, lacking the C-terminal regulatory domain (PEG-CBS), is a promising preclinical candidate for enzyme replacement therapy in homocystinuria (HCU). It was designed to function as a metabolic sink to decrease the severely elevated plasma and tissue homocysteine concentrations. In this communication, we evaluated pharmacokinetics (PK), pharmacodynamics (PD) and sub-chronic toxicity of PEG-CBS in homocystinuric mice, wild type rats and monkeys to estimate the minimum human efficacious dose for clinical trials. Read More

    Newborn Screening: History, Current Status, and Future Directions.
    Pediatr Clin North Am 2018 Apr 28;65(2):389-405. Epub 2017 Dec 28.
    Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, One Baylor Plaza, Houston, TX 77030, USA. Electronic address:
    Newborn screening programs aim to achieve presymptomatic diagnosis of treatable disorders allowing for early initiation of medical care to prevent or reduce significant morbidity and mortality. Many of the conditions included in the newborn screening panels are inborn errors of metabolism; however, screening for endocrine, hematologic, immunologic, and cardiovascular diseases, and hearing loss is also included in many panels. Newborn screening tests are not diagnostic and therefore diagnostic testing is needed to confirm or exclude the suspected diagnosis. Read More

    Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders.
    Pediatr Clin North Am 2018 Apr;65(2):375-388
    Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Hayward Genetics Center, Tulane University Medical School, New Orleans, LA, USA. Electronic address:
    Congenital disorders of glycosylation (CDG) and mitochondrial disorders have overlapping clinical features, including central nervous system, cardiac, gastrointestinal, hepatic, muscular, endocrine, and psychiatric disease. Specific abnormalities orienting the clinician toward the right diagnostic approach include abnormal fat distribution, coagulation abnormalities, together with anticoagulation abnormalities, hyperinsulinism, and congenital malformations in CDG. Diabetes, sensorineural deafness, and depression are very rare in CDG but common in mitochondrial disease. Read More

    Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System.
    Pediatr Clin North Am 2018 Apr 28;65(2):317-335. Epub 2017 Dec 28.
    Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address:
    Fatty acid oxidation disorders (FAODs) and carnitine shuttling defects are inborn errors of energy metabolism with associated mortality and morbidity due to cardiomyopathy, exercise intolerance, rhabdomyolysis, and liver disease with physiologic stress. Hypoglycemia is characteristically hypoketotic. Lactic acidemia and hyperammonemia may occur during decompensation. Read More

    Inborn Errors of Metabolism with Seizures: Defects of Glycine and Serine Metabolism and Cofactor-Related Disorders.
    Pediatr Clin North Am 2018 Apr 28;65(2):279-299. Epub 2017 Dec 28.
    Division of Clinical Genetics and Metabolic Disorders, Pediatrics Department, Tawam Hospital, Tawam Roundabout, Al-Ain 15258, United Arab Emirates. Electronic address:
    Inborn errors of metabolism (IEM) are relatively uncommon causes for seizures in children; however, they should be considered in the differential diagnosis because several IEM are potentially treatable and seizures can be resolved if appropriate treatment is initiated. Clues from clinical presentation, physical examination, laboratory tests, and brain imaging can raise the possibility of IEM. Several IEM can present with seizures, either as the main presenting finding or as a part of a more complex phenotype. Read More

    Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine.
    Pediatr Clin North Am 2018 Apr;65(2):267-277
    Division of Medical Genetics, Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh, UPMC, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address:
    Phenylketonuria is a defect in phenylalanine metabolism resulting in the excretion of phenylketones and severe intellectual disability. The principle of eliminating the offending amino acid from the diet as a successful treatment strategy was demonstrated. The development of a low methionine diet to treat homocystinuria was established after identifying the transsulfuration pathway resulting in cysteine synthesis. Read More

    Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment.
    JIMD Rep 2018 Feb 27. Epub 2018 Feb 27.
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
    Metabolomic profiling is an emerging technology in the clinical setting with immediate diagnostic potential for the population of patients with Inborn Errors of Metabolism. We present the metabolomics profile of two ABAT deficiency patients both pre- and posttreatment with flumazenil. ABAT deficiency, also known as GABA-transaminase deficiency, is caused by recessive mutations in the gene ABAT and leads to encephalopathy of variable severity with hypersomnolence, hypotonia, hypomyelination, and seizures. Read More

    Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.
    Clin Chim Acta 2018 Jun 22;481:1-8. Epub 2018 Feb 22.
    Department of Metabolic Biochemistry, Rouen University Hospital, Rouen 76000, France; Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France. Electronic address:
    Purposes: Hydrops fetalis is a life-threatening fetal condition, and 85% of all cases are classified as nonimmune hydrops fetalis (NIHF). Up to 15% of NIHF cases may be due to inborn errors of metabolism (IEM), but a large proportion of cases linked to metabolic disorders remains undiagnosed. This lack of diagnosis may be related to the limitations of conventional biological procedures, which involve sequential investigations and require multiple samples and steps. Read More

    Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
    Cell 2018 Feb;172(5):952-965.e18
    St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France; Paris Descartes University, Imagine Institute, Paris 75015, France; Howard Hughes Medical Institute, New York, NY 10065, USA; Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris 75015, France.
    Viruses that are typically benign sometimes invade the brainstem in otherwise healthy children. We report bi-allelic DBR1 mutations in unrelated patients from different ethnicities, each of whom had brainstem infection due to herpes simplex virus 1 (HSV1), influenza virus, or norovirus. DBR1 encodes the only known RNA lariat debranching enzyme. Read More

    The Essential Role of Primary Caregiver in Early Detection of Familial Hypercholesterolemia and Cardiovascular Prevention.
    Curr Pediatr Rev 2017 ;13(4):260-264
    Department of Medicine, McGill University, Montreal, Quebec, Canada.
    Familial hypercholesterolemia (FH) is a worldwide common autosomal inherited condition associated with premature cardiovascular diseases, both in men and in women (World frequency has been recently estimated to be as high as 1:250). Identifying FH cases early in life could represent a cornerstone to prevent fatal events in adult's life. Pediatricians are well positioned to evaluate the familial cardiovascular risk factors among their young patients, to make a diagnosis and to perform familial screening. Read More

    Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.
    J Inherit Metab Dis 2018 Feb 16. Epub 2018 Feb 16.
    Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Geert Groote Plein Zuid 10, 6525, GA, Nijmegen, The Netherlands.
    The implementation of whole-exome sequencing in clinical diagnostics has generated a need for functional evaluation of genetic variants. In the field of inborn errors of metabolism (IEM), a diverse spectrum of targeted biochemical assays is employed to analyze a limited amount of metabolites. We now present a single-platform, high-resolution liquid chromatography quadrupole time of flight (LC-QTOF) method that can be applied for holistic metabolic profiling in plasma of individual IEM-suspected patients. Read More

    Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
    PLoS One 2018 16;13(2):e0188869. Epub 2018 Feb 16.
    Department of Pediatrics, Peking University First Hospital, Beijing, China.
    Objective: Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans. This study was aimed to clarify the clinical and genetic features of HMDs in Chinese population.

    Methods: 119 patients with hypomyelinating disorders in Chinese population were enrolled and evaluated based on their history, clinical manifestation, laboratory examinations, series of brain MRI with follow-up, genetic etiological tests including chromosomal analysis, multiplex ligation probe amplification, Sanger sequencing, targeted enrichment-based next-generation sequencing and whole exome sequencing. Read More

    The functional genomics laboratory: functional validation of genetic variants.
    J Inherit Metab Dis 2018 Feb 14. Epub 2018 Feb 14.
    Radboudumc, Radboud Center for Mitochondrial Medicine, 774 Translational Metabolic Laboratory, Department of Pediatrics, PO Box 9101, 6500HB, Nijmegen, The Netherlands.
    Currently, one of the main challenges in human molecular genetics is the interpretation of rare genetic variants of unknown clinical significance. A conclusive diagnosis is of importance for the patient to obtain certainty about the cause of the disease, for the clinician to be able to provide optimal care to the patient and to predict the disease course, and for the clinical geneticist for genetic counseling of the patient and family members. Conclusive evidence for pathogenicity of genetic variants is therefore crucial. Read More

    Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
    JIMD Rep 2018 Feb 15. Epub 2018 Feb 15.
    King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
    Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes. Clinically, it is characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. It can be classified as primary if it is due to a genetic defect, or secondary if it is due to a different etiology such as severe infection, immune deficiency syndrome, rheumatological disorder, malignancy, and inborn errors of metabolism such as galactosemia, multiple sulfatase deficiency, lysinuric protein intolerance, Gaucher disease, Niemann-Pick disease, Wolman disease, propionic acidemia, methylmalonic acidemia, biotinidase deficiency, cobalamin C defect, galactosialidosis, Pearson syndrome, and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Read More

    Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report.
    Medicine (Baltimore) 2018 Feb;97(7):e9880
    Department of Pediatrics, West China Second University Hospital.
    Rationale: Argininemia is an autosomal recessive inherited disorder of the urea cycle. Because of its atypical symptoms in early age, diagnosis can be delayed until the typical chronic manifestations - including spastic diplegia, deterioration in cognitive function, and epilepsy - appear in later childhood.

    Patient Concerns: A Chinese boy initially presented with severe stunting and partial growth hormone deficiency (PGHD) at 3 years old and was initially treated with growth hormone replacement therapy. Read More

    Peroxisomal disorders: Improved laboratory diagnosis, new defects and the complicated route to treatment.
    Mol Cell Probes 2018 Feb 10. Epub 2018 Feb 10.
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands; Department of Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. Electronic address:
    Peroxisomes catalyze a number of essential metabolic functions of which fatty acid alpha- and beta-oxidation, ether phospholipid biosynthesis, glyoxylate detoxification and bile acid synthesis are the most important. The key role of peroxisomes in humans is exemplified by the existence of a group of peroxisomal disorders, caused by mutations in > 30 different genes which code for proteins with a role in either peroxisome biogenesis or one of the metabolic pathways in peroxisomes. Technological advances in laboratory methods at the metabolite-, enzyme-, and molecular level have not only allowed the identification of new peroxisomal disorders but also new phenotypes associated with already identified genetic defects thus extending the clinical spectrum. Read More

    From rodent heart to inborn errors of human metabolism.
    Mol Genet Metab 2018 Mar 5;123(3):287-288. Epub 2018 Feb 5.
    Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; Department of Pediatrics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada; Department of Pediatrics, Academic Medical Centre, Amsterdam, The Netherlands; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.

    [Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia].
    Orv Hetil 2018 Feb;159(7):269-277
    II. Belgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest.
    Congenital adrenal hyperplasia is a group of genetic diseases due to the disablement of 7 genes; one of them is steroid 21-hydroxylase deficiency. The genes of congenital adrenal hyperplasia encode enzymes taking part in the steroidogenesis of adrenal gland. Steroid 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations of the steroid 21-hydroxylase gene. Read More

    Diacerein orphan drug development for epidermolysis bullosa simplex: A phase 2/3 randomized, placebo-controlled, double-blind clinical trial.
    J Am Acad Dermatol 2018 May 2;78(5):892-901.e7. Epub 2018 Feb 2.
    Department of Dermatology, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.
    Background: Epidermolysis bullosa simplex (EBS) is a rare genetic, blistering skin disease for which there is no cure. Treatments that address the pathophysiology of EBS are needed.

    Objective: Compare the impact of 1% diacerein cream with placebo in reducing the number of blisters in EBS. Read More

    Inborn errors of metabolism and the human interactome: a systems medicine approach.
    J Inherit Metab Dis 2018 Feb 5. Epub 2018 Feb 5.
    Department of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Lindwurmstrasse 4, 80336, Munich, Germany.
    The group of inborn errors of metabolism (IEM) displays a marked heterogeneity and IEM can affect virtually all functions and organs of the human organism; however, IEM share that their associated proteins function in metabolism. Most proteins carry out cellular functions by interacting with other proteins, and thus are organized in biological networks. Therefore, diseases are rarely the consequence of single gene mutations but of the perturbations caused in the related cellular network. Read More

    A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.
    Clin Biochem 2018 Apr 2;54:131-138. Epub 2018 Feb 2.
    Newborn Screening Ontario, Children's Hospital of Eastern Ontario, 415 Smyth Road, Ottawa, Ontario, Canada; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Department of Pediatrics, 451 Smyth Road, Ottawa, Ontario, Canada; University of Ottawa, Department of Pathology and Laboratory Medicine, 451 Smyth Road, Ottawa, Ontario, Canada.
    Background: Several acylcarnitines used as primary markers on dried blood filter papers (DBS) for newborn screening lack specificity and contribute to a higher false positive rate. The analysis of urine acylglycines is useful in the diagnosis of inborn errors of metabolism (IEM) including medium chain acyl-CoA dehydrogenase deficiency (MCADD), isovaleric acidemia, and beta-ketothiolase deficiency (BKTD). Currently, no method for analyzing acylglycines from DBS has been published. Read More

    Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder.
    Indian Pediatr 2018 01;55(1):67-68
    Department of Pediatrics, Medical Faculty, Section of Inborn Errors of Metabolism, Baskent University, Ankara, Turkey. Correspondence to: Dr Halil Ibrahim Aydin, Professor, Baskent University Medical Faculty, Department of Pediatrics, Section of Inborn Errors of Metabolism, Temel Kuguluoglu Sokak, No: 24/2, Bahçelievler, Ankara, Turkey.
    Background: Creatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism.

    Case Characteristics: Two brothers with autism spectrum disorder were diagnosed with CTD at the ages of 17 and 12 years. Both were found to have a previously reported hemizygous p. Read More

    Renal replacement therapy in the neonatal intensive care unit.
    Pediatr Neonatol 2017 Dec 21. Epub 2017 Dec 21.
    Division of Neonatology, Department of Pediatrics, Chang Gung Memorial Hospital Linkou Branch and School of Medicine, Chang Gung University, No. 5, Fuxing St., Guishan Dist., Taoyuan City 333, Taiwan, ROC. Electronic address:
    Background: Renal replacement therapy (RRT) is becoming increasingly necessary for supporting critically ill neonates. Few studies have reported the use of RRT in the neonatal intensive care unit (NICU). Therefore, we performed a retrospective study to describe the use of RRT in our NICU and its associated efficacy, complications, and outcomes. Read More

    Healthcare resource use and costs of managing children and adults with lysosomal acid lipase deficiency at a tertiary referral centre in the United Kingdom.
    PLoS One 2018 2;13(2):e0191945. Epub 2018 Feb 2.
    Lysosomal Disorders Unit, Addenbrooke's Hospital, Cambridge, United Kingdom.
    Objective: To estimate clinical progression and resource utilisation together with the associated costs of managing children and adults with LAL Deficiency, at a tertiary referral centre in the UK.

    Methods: A retrospective chart review was undertaken of patients in the UK with a confirmed diagnosis of LAL Deficiency who were managed at a LAL Deficiency tertiary referral treatment centre. Patients' pathways, treatment patterns, health outcomes and resource use were quantified over differing lengths of time for each patient enabling the NHS cost of patient management in tertiary care to be estimated. Read More

    Arterial stiffness assessment in patients with phenylketonuria.
    Medicine (Baltimore) 2017 Dec;96(51):e9322
    Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Service of Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Choupana.
    In patients with phenylketonuria (PKU) compliant to diet greater tendency to overweight and higher inflammatory biomarkers levels than controls were reported. Although this could lead to atherogenesis, the elastic properties of large arteries in PKU patients have never been assessed. The aim of this study was to assess arterial stiffness measured by applanation tonometry in PKU patients compared to healthy controls. Read More

    Infantile-onset Pompe disease with neonatal debut: A case report and literature review.
    Medicine (Baltimore) 2017 Dec;96(51):e9186
    Department of Neonatology-Pediatrics.
    Rationale: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment.

    Patient Concerns: We report a case of a newborn with infantile-onset Pompe disease diagnosed in the first days of life who did not undergo universal neonatal screening. Read More

    The impact of consanguinity on the frequency of inborn errors of metabolism.
    Mol Genet Metab Rep 2018 Jun 11;15:6-10. Epub 2018 Jan 11.
    Centre for Inherited Metabolic Diseases, Departments of Pediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
    Inborn errors of metabolism (IEM) are a heterogeneous group of genetic disorders present in all ethnic groups. We investigated the frequency of consanguinity among parents of newborns with IEM diagnosed by neonatal screening. Data were obtained from 15 years of expanded newborn screening for selected IEM with autosomal recessive mode of inheritance, a national screening program of newborns covering the period from 2002 until April 2017. Read More

    Recent perspectives of pediatric mitochondrial diseases.
    Exp Ther Med 2018 Jan 27;15(1):13-18. Epub 2017 Oct 27.
    Department of Neonatology, Xuzhou Children's Hospital, Xuzhou, Jiangsu 221002, P.R. China.
    Mitochondrial disorders are amongst the most common groups of inborn errors of metabolism. They are caused by deficiencies in the final pathway of the cellular energy production, the mitochondrial respiratory chain. The disorders are clinically and genetically heterogeneous and the aetiology could be found in the mitochondrial, or in the nuclear genome. Read More

    "Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.
    J Inherit Metab Dis 2018 Jan 25. Epub 2018 Jan 25.
    Institute of Human Genetics, Technische Universität München, Trogerstrasse 32, 81675, Munich, Germany.
    Exome wide sequencing techniques have revolutionized molecular diagnostics in patients with suspected inborn errors of metabolism or neuromuscular disorders. However, the diagnostic yield of 25-60% still leaves a large fraction of individuals without a diagnosis. This indicates a causative role for non-exonic regulatory variants not covered by whole exome sequencing. Read More

    International practices in the dietary management of fructose 1-6 biphosphatase deficiency.
    Orphanet J Rare Dis 2018 Jan 25;13(1):21. Epub 2018 Jan 25.
    Birmingham Women's and Children's Hospital, Birmingham, UK.
    Background: In fructose 1,6 bisphosphatase (FBPase) deficiency, management aims to prevent hypoglycaemia and lactic acidosis by avoiding prolonged fasting, particularly during febrile illness. Although the need for an emergency regimen to avoid metabolic decompensation is well established at times of illness, there is uncertainty about the need for other dietary management strategies such as sucrose or fructose restriction. We assessed international differences in the dietary management of FBPase deficiency. Read More

    Mitochondrial translation requires folate-dependent tRNA methylation.
    Nature 2018 Feb 24;554(7690):128-132. Epub 2018 Jan 24.
    Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, New Jersey 08544, USA.
    Folates enable the activation and transfer of one-carbon units for the biosynthesis of purines, thymidine and methionine. Antifolates are important immunosuppressive and anticancer agents. In proliferating lymphocytes and human cancers, mitochondrial folate enzymes are particularly strongly upregulated. Read More

    Efficacy of Peritoneal Dialysis in Neonates Presenting With Hyperammonaemia Due to Urea Cycle Defects and Organic Acidaemia.
    Nephrology (Carlton) 2018 Jan 22. Epub 2018 Jan 22.
    Diyarbakir Children's Hospital, Department of Pediatrics, Division of Pediatric Neurology, Diyarbakir, Turkey.
    Aim: Newborns with inborn errors of metabolism can present with hyperammonaemic coma. In this study, we evaluated the effect of peritoneal dialysis on plasma ammonium levels and on the short-term outcome in neonatal patients with urea cycle defects and organic acidaemia.

    Methods: Data from infants with hyperammonaemia due to urea cycle defects or organic acidaemia treated with dialysis were collected and retrospectively analysed. Read More

    Disorders of metal metabolism.
    Transl Sci Rare Dis 2017 Dec 18;2(3-4):101-139. Epub 2017 Dec 18.
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
    Trace elements are chemical elements needed in minute amounts for normal physiology. Some of the physiologically relevant trace elements include iodine, copper, iron, manganese, zinc, selenium, cobalt and molybdenum. Of these, some are metals, and in particular, transition metals. Read More

    Single low-dose primaquine for blocking transmission of Plasmodium falciparum malaria - a proposed model-derived age-based regimen for sub-Saharan Africa.
    BMC Med 2018 01 18;16(1):11. Epub 2018 Jan 18.
    Mahidol Oxford Tropical Medicine Research Unit (MORU), Mahidol University, 420/6 Rajvithi Road, Rajthevee, Bangkok, 10400, Thailand.
    Background: In 2012, the World Health Organization recommended blocking the transmission of Plasmodium falciparum with single low-dose primaquine (SLDPQ, target dose 0.25 mg base/kg body weight), without testing for glucose-6-phosphate dehydrogenase deficiency (G6PDd), when treating patients with uncomplicated falciparum malaria. We sought to develop an age-based SLDPQ regimen that would be suitable for sub-Saharan Africa. Read More

    Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis.
    J Inherit Metab Dis 2018 Jan 16. Epub 2018 Jan 16.
    Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Room 3109, 950 West 28th Avenue, Vancouver, BC, V5Z 4H4, Canada.
    Phenomics is the comprehensive study of phenotypes at every level of biology: from metabolites to organisms. With high throughput technologies increasing the scope of biological discoveries, the field of phenomics has been developing rapid and precise methods to collect, catalog, and analyze phenotypes. Such methods have allowed phenotypic data to be widely used in medical applications, from assisting clinical diagnoses to prioritizing genomic diagnoses. Read More

    Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report.
    Ital J Pediatr 2018 Jan 15;44(1). Epub 2018 Jan 15.
    Pediatric Neurology Unit, "Vittore Buzzi" Children's Hospital, ASST FBF-Sacco, Milan, Italy.
    Background: Perinatal asphyxia (PA) occurs in about 2 to 10 per 1000 live full-term births. Although neonatal epileptic seizures are observed in up to 60% of cases, PA may mimic or subtend other conditions. Hypoxia related brain injury is particularly relevant, as it may have permanent effects on neuropsychomotor development. Read More

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