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    11477 results match your criteria Pediatrics Inborn Errors of Metabolism

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    The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism.
    J Pediatr 2017 Jun 16. Epub 2017 Jun 16.
    Department of Metabolic Medicine, Royal Children's Hospital and Murdoch Children's Research Institute, Melbourne, Australia; Department of Nutrition, Dietetics and Food, Monash University, Melbourne, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Australia.
    Objectives: To examine relationships between dietary intake, growth and body composition patterns in patients with inborn errors of intermediary protein metabolism and to determine a safe protein:energy ratio (P:E ratio) associated with optimal growth outcomes.

    Study Design: Retrospective longitudinal data of growth and dietary intake in patients (n = 75) with isovaleric acidemia (IVA; n = 7), methylmalonic acidemia/propionic acidemia (MMA/PA; n = 14), urea cycle defects (UCD; n = 44), classical maple syrup urine disease (MSUD; n = 10) were collected. Prospective longitudinal data of growth, dietary intake, and body composition from 21 patients: IVA (n = 5), MMA/PA (n = 6), UCD (n = 7), and MSUD (n = 3) were collected at clinic visits. Read More

    3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
    Mol Genet Metab 2017 May 22. Epub 2017 May 22.
    Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Division of Clinical Chemistry & Biochemistry and Children's Research Center, University Children's Hospital, Zürich, Switzerland; Bioanalytics & Biochemistry, Department of Natural Sciences, University of Applied Sciences, Rheinbach, Germany. Electronic address:
    3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare inborn error of ketone body synthesis and leucine degradation, caused by mutations in the HMGCL gene. In order to obtain a comprehensive view on this disease, we have collected clinical and biochemical data as well as information on HMGCL mutations of 37 patients (35 families) from metabolic centers in Belgium, Germany, The Netherlands, Switzerland, and Turkey. All patients were symptomatic at some stage with 94% presenting with an acute metabolic decompensation. Read More

    Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism.
    BMC Med Genet 2017 May 31;18(1):59. Epub 2017 May 31.
    Institute of Medical Biology, Genetics and Clinical Genetics, Comenius University, Faculty of Medicine & University Hospital Bratislava, Sasinkova 4, 811 08, Bratislava, Slovakia.
    Background: Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a consequence of deficient enzyme activity, excessive amounts of oxalate and L-glycerate are excreted in the urine, and are a source for the formation of calcium oxalate stones that result in recurrent nephrolithiasis and less frequently nephrocalcinosis. Read More

    L-Carnitine and Acetyl-L-carnitine Roles and Neuroprotection in Developing Brain.
    Neurochem Res 2017 Jun 16;42(6):1661-1675. Epub 2017 May 16.
    Department of Pediatrics, University of Maryland School of Medicine, 655 W. Baltimore Street, BRB 13-019, Baltimore, MD, 21201, USA.
    L-Carnitine functions to transport long chain fatty acyl-CoAs into the mitochondria for degradation by β-oxidation. Treatment with L-carnitine can ameliorate metabolic imbalances in many inborn errors of metabolism. In recent years there has been considerable interest in the therapeutic potential of L-carnitine and its acetylated derivative acetyl-L-carnitine (ALCAR) for neuroprotection in a number of disorders including hypoxia-ischemia, traumatic brain injury, Alzheimer's disease and in conditions leading to central or peripheral nervous system injury. Read More

    Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.
    BMC Med Genet 2017 May 4;18(1):51. Epub 2017 May 4.
    Third Department of Pediatrics, Athens University Medical School, University General Hospital "Attikon", 1 Rimini Str, 12464 -Haidari, Athens, Greece.
    Background: Niemann-Pick type C disease (NPC) is an autosomal recessive, neurovisceral, lysosomal storage disorder with protean and progressive clinical manifestations, resulting from mutations in either of the two genes, NPC1 (~95% of families) and NPC2. Contrary to other populations, published evidence regarding NPC disease in Greece is sparse.

    Methods: The study population consisted of two Greek NPC patients and their extended pedigree. Read More

    Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
    Arch Dis Child 2017 May 3. Epub 2017 May 3.
    Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK.
    Background: Inborn errors of metabolism (IEMs) underlie a substantial proportion of paediatric disease burden but their genetic diagnosis can be challenging using the traditional approaches.

    Methods: We designed and validated a next-generation sequencing (NGS) panel of 226 IEM genes, created six overlapping phenotype-based subpanels and tested 102 individuals, who presented clinically with suspected childhood-onset IEMs.

    Results: In 51/102 individuals, NGS fully or partially established the molecular cause or identified other actionable diagnoses. Read More

    d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.
    Mol Genet Metab 2017 Jun 20;121(2):80-82. Epub 2017 Apr 20.
    Bioanalytics & Biochemistry, Department of Natural Sciences, Bonn-Rhein-Sieg University of Applied Sciences, von-Liebig-Str. 20, 53359 Rheinbach, Germany. Electronic address:
    Historically, d-glyceric aciduria was thought to cause an uncharacterized blockage to the glycine cleavage enzyme system (GCS) causing nonketotic hyperglycinemia (NKH) as a secondary phenomenon. This inference was reached based on the clinical and biochemical results from the first d-glyceric aciduria patient reported in 1974. Along with elevated glyceric acid excretion, this patient exhibited severe neurological symptoms of myoclonic epilepsy and absent development, and had elevated glycine levels and decreased glycine cleavage system enzyme activity. Read More

    Case 13-2017. A 41-Year-Old Man with Hearing Loss, Seizures, Weakness, and Cognitive Decline.
    N Engl J Med 2017 04;376(17):1668-1678
    From the Departments of Neurology (H.M.R.), Radiology (W.A.C.), Pediatrics (A.K.), and Pathology (D.H.O.), Massachusetts General Hospital, and the Departments of Neurology (H.M.R.), Radiology (W.A.C.), Pediatrics (A.K.), and Pathology (D.H.O.), Harvard Medical School - both in Boston.

    Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review.
    Brain Dev 2017 Apr 21. Epub 2017 Apr 21.
    Division of Endocrinology and Metabolism, Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
    3-Methylglutaconic aciduria is a member of inborn errors of leucine metabolism pathway. 3-Methylglutaconic aciduria type I (MGA1) causes neurological problems which are present during infancy or childhood but the diagnosis may be delayed until adulthood. Here we report a 3years old patient with developmental delay from a relative parent's that his medical evaluations include analyses of urinary organic acid and blood acylcarnitine showed high level of 3-methylglutacoic acid, 3-hydroxyisovaleric acid and increased level of 3-hydroxyisovalerylcarnitine respectively. Read More

    Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation.
    Sci Rep 2017 Apr 19;7(1):957. Epub 2017 Apr 19.
    Folkhälsan Research Center, Helsinki, Finland.
    Mitochondrial disorders are among the most prevalent inborn errors of metabolism but largely lack treatments and have poor outcomes. High-fat, low-carbohydrate ketogenic diets (KDs) have shown beneficial effects in mouse models of mitochondrial myopathies, with induction of mitochondrial biogenesis as the suggested main mechanism. We fed KD to mice with respiratory chain complex III (CIII) deficiency and progressive hepatopathy due to mutated BCS1L, a CIII assembly factor. Read More

    Phenotype of GABA-transaminase deficiency.
    Neurology 2017 May 14;88(20):1919-1924. Epub 2017 Apr 14.
    From Child and Adolescent Neurology (M.K.K.), University of Texas Medical School, Houston; Neurology (R.H., P.L.P.), Boston Children's Hospital, Harvard Medical School, MA; Child Neurology (J.J.R., W.C., J.B., C.A.C.), Columbia University School of Medicine, New York, NY; Neurology (K.I., M.T.), Kanagawa Children's Medical Center, Yokohama; Pediatrics (H.O.), Jichi Medical School, Tochigi, Japan; Experimental and Systems Pharmacology (K.M.G.), Washington State University, Spokane; and Molecular and Human Genetics (P.E.B.), Baylor College of Medicine, Houston, TX.
    Objective: We report a case series of 10 patients with γ-aminobutyric acid (GABA)-transaminase deficiency including a novel therapeutic trial and an expanded phenotype.

    Methods: Case ascertainment, literature review, comprehensive evaluations, and long-term treatment with flumazenil.

    Results: All patients presented with neonatal or early infantile-onset encephalopathy; other features were hypotonia, hypersomnolence, epilepsy, choreoathetosis, and accelerated linear growth. Read More

    Clinical and Laboratory Diagnosis of Peroxisomal Disorders.
    Methods Mol Biol 2017 ;1595:329-342
    Department Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.
    The peroxisomal disorders (PDs) are a heterogeneous group of genetic diseases in man caused by an impairment in peroxisome biogenesis or one of the metabolic functions of peroxisomes. Thanks to the revolutionary technical developments in gene sequencing methods and their increased use in patient diagnosis, the field of genetic diseases in general and peroxisomal disorders in particular has dramatically changed in the last few years. Indeed, several novel peroxisomal disorders have been identified recently and in addition it has been realized that the phenotypic spectrum of patients affected by a PD keeps widening, which makes clinical recognition of peroxisomal patients increasingly difficult. Read More

    Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
    J Inherit Metab Dis 2017 Apr 13. Epub 2017 Apr 13.
    Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, 2145, Australia.
    Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)-congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade. Here, we further expand the list of inborn errors of metabolism associated with cutis laxa by describing the clinical presentation of a 17-month-old girl with Leigh-like syndrome due to enoyl coenzyme A hydratase, short chain, 1, mitochondria (ECHS1) deficiency, a mitochondrial matrix enzyme that catalyzes the second step of the beta-oxidation spiral of fatty acids and plays an important role in amino acid catabolism, particularly valine. Read More

    Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.
    Orphanet J Rare Dis 2017 Apr 11;12(1):68. Epub 2017 Apr 11.
    Australian Paediatric Surveillance Unit, Kids Research Institute, Westmead, NSW, 2145, Australia.
    Background: Children and families living with rare disease often experience significant health, psychosocial, economic burdens and diagnostic delays. Experiences appear to be constant, regardless of the specific rare disease diagnosis. Systematically collected Australian data to support policy response on rare diseases are scarce. Read More

    Challenges for achieving safe and effective radical cure of Plasmodium vivax: a round table discussion of the APMEN Vivax Working Group.
    Malar J 2017 Apr 5;16(1):141. Epub 2017 Apr 5.
    Global and Tropical Health Division, Menzies School of Health Research and Charles Darwin University, Darwin, Australia.
    The delivery of safe and effective radical cure for Plasmodium vivax is one of the greatest challenges for achieving malaria elimination from the Asia-Pacific by 2030. During the annual meeting of the Asia Pacific Malaria Elimination Network Vivax Working Group in October 2016, a round table discussion was held to discuss the programmatic issues hindering the widespread use of primaquine (PQ) radical cure. Participants included 73 representatives from 16 partner countries and 33 institutional partners and other research institutes. Read More

    Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.
    Am J Hum Genet 2017 Apr 30;100(4):617-634. Epub 2017 Mar 30.
    Department of Genetics and Genome Sciences, School of Medicine, Case Western Reserve University, Cleveland, OH 44106, USA. Electronic address:
    Pelizaeus-Merzbacher disease (PMD) is a pediatric disease of myelin in the central nervous system and manifests with a wide spectrum of clinical severities. Although PMD is a rare monogenic disease, hundreds of mutations in the X-linked myelin gene proteolipid protein 1 (PLP1) have been identified in humans. Attempts to identify a common pathogenic process underlying PMD have been complicated by an incomplete understanding of PLP1 dysfunction and limited access to primary human oligodendrocytes. Read More

    X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.
    Pediatr Neurol 2017 Jun 7;71:65-69. Epub 2017 Jan 7.
    Department of Pediatrics, University of Colorado, School of Medicine, Aurora, Colorado. Electronic address:
    Background: Autosomal recessive or X-linked inborn errors of intracellular cobalamin metabolism can lead to methylmalonic aciduria and homocystinuria. In neonates, both increased cerebrospinal fluid glycine and cerebrospinal fluid/plasma glycine ratio are biochemical features of nonketotic hyperglycinemia.

    Methods: We describe a boy presenting in the neonatal period with hypotonia, tonic, clonic, and later myoclonic seizures, subsequently evolving into refractory epilepsy and severe neurocognitive impairment. Read More

    Paroxysmal eye-head movements in Glut1 deficiency syndrome.
    Neurology 2017 Apr 24;88(17):1666-1673. Epub 2017 Mar 24.
    From the Colleen Giblin Research Laboratory (K.E., D.C.D.), Division of Pediatric Neurology, Department of Neurology (T.S.P., R.P.), Department of Ophthalmology, Edward S. Harkness Eye Institute (S.A.K.), Mahoney-Keck Center for Brain and Behavior Research (M.E.G.), Department of Neuroscience (M.E.G.), and the Departments of Neurology, Psychiatry, and Ophthalmology (M.E.G.), Columbia University College of Physicians and Surgeons, New York, NY; Department of Neurology (T.S.P.), Washington University School of Medicine, St. Louis, MO; First Department of Pediatrics (R.P.), National and Kapodistrian University of Athens, Aghia Sofia Hospital, Greece; Kavli Institute for Neuroscience (M.E.G.), Columbia University; and the Division of Neurobiology and Behavior (M.E.G.), New York State Psychiatric Institute, New York.
    Objective: To describe a characteristic paroxysmal eye-head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS).

    Methods: We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and analyzed video recordings of 18 eye movement episodes from 10 patients.

    Results: A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here. Read More

    Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.
    J Paediatr Child Health 2017 Jun 24;53(6):585-591. Epub 2017 Mar 24.
    Research Center, Ministry of Health, Riyadh, Saudi Arabia.
    Aim: To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders.

    Methods: A retrospective study conducted between 1 August 2005 and 31 December 2012, total of 775 000 newborns were screened from 139 hospitals distributed among all regions of Saudi Arabia. The NBS Program screens for 16 disorders from a selective list of inborn errors of metabolism (IEM) and endocrine disorders. Read More

    Neurocognitive profiles in MSUD school-age patients.
    J Inherit Metab Dis 2017 May 21;40(3):377-383. Epub 2017 Mar 21.
    Reference Centre for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, 48 boulevard Sérurier, 75019, Paris, France.
    Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varying degree. Currently, earlier diagnosis and improved management allow a better neurodevelopment, without requirement of special education. Read More

    Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects.
    J Clin Endocrinol Metab 2017 Apr;102(4):1375-1386
    Université Lille, Centre National de la Recherche Française, UMR 8576-Unité de Glycobiologie Structurale et Fonctionnelle-Unité de Glycobiologie Structurale et Fonctionnelle, F-59000 Lille, France.
    Context: TMEM165 deficiency is a severe multisystem disease that manifests with metabolic, endocrine, and skeletal involvement. It leads to one type of congenital disorders of glycosylation (CDG), a rapidly growing group of inherited diseases in which the glycosylation process is altered. Patients have decreased galactosylation by serum glycan analysis. Read More

    Bile acid analysis in human disorders of bile acid biosynthesis.
    Mol Aspects Med 2017 Mar 22. Epub 2017 Mar 22.
    Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands.
    Bile acids facilitate the absorption of lipids in the gut, but are also needed to maintain cholesterol homeostasis, induce bile flow, excrete toxic substances and regulate energy metabolism by acting as signaling molecules. Bile acid biosynthesis is a complex process distributed across many cellular organelles and requires at least 17 enzymes in addition to different metabolite transport proteins to synthesize the two primary bile acids, cholic acid and chenodeoxycholic acid. Disorders of bile acid synthesis can present from the neonatal period to adulthood and have very diverse clinical symptoms ranging from cholestatic liver disease to neuropsychiatric symptoms and spastic paraplegias. Read More

    A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.
    J Lipid Res 2017 May 17;58(5):1002-1007. Epub 2017 Mar 17.
    Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands.
    Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis in which symptoms can be prevented if treatment with chenodeoxycholic acid supplementation is initiated early in life, making CTX an excellent candidate for newborn screening. We developed a new dried blood spot (DBS) screening assay for this disorder on the basis of different ratios between the accumulating cholestanetetrol glucuronide (tetrol) and specific bile acids/bile acid intermediates, without the need for derivatization. A quarter-inch DBS punch was extracted with methanol, internal standards were added, and after concentration the extract was injected into the tandem mass spectrometer using a 2 min flow injection analysis for which specific transitions were measured for cholestanetetrol glucuronide, taurochenodeoxycholic acid (t-CDCA), and taurotrihydroxycholestanoic acid (t-THCA). Read More

    Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs.
    Biochem Biophys Res Commun 2017 May 14;486(3):613-619. Epub 2017 Mar 14.
    Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan. Electronic address:
    Citrullinemia type 1 (CTLN1) is a urea cycle disorder (UCD) caused by mutations of the ASS1 gene, which is responsible for production of the enzyme argininosuccinate synthetase (ASS), and classically presented as life-threatening hyperammonemia in newborns. Therapeutic options are limited, and neurological sequelae may persist. To understand the pathophysiology and find novel treatments, induced pluripotent stem cells (iPSCs) were generated from a CTLN1 patient and differentiated into hepatocyte-like cells (HLCs). Read More

    Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.
    Mol Genet Metab 2017 May 9;121(1):16-21. Epub 2017 Mar 9.
    Department of Genetics, Hospital Central Sur de Alta Especialidad, PEMEX, Mexico City, Mexico; Facultad Mexicana de Medicina, Universidad La Salle, Mexico City, Mexico. Electronic address:
    Objective: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services).

    Study Design: Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease. Screen-positive cases were confirmed using leukocyte enzymatic activity and DNA molecular analysis. Read More

    Amelioration of serum 8-OHdG level by enzyme replacement therapy in patients with Fabry cardiomyopathy.
    Biochem Biophys Res Commun 2017 Apr 12;486(2):293-299. Epub 2017 Mar 12.
    School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC; Division of Cardiology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan, ROC. Electronic address:
    Objectives: The level of 8-hydroxy-2-deoxyguanosise (8-OHdG) is a marker of oxidative stress. The objective of this study was to evaluate the effect of enzyme replacement therapy (ERT) on the level of 8-OHdG in patients with Fabry cardiomyopathy and the clinical evolution of Fabry cardiomyopathy.

    Methods: We measured the serum levels of 8-OHdG in 20 healthy control and 22 patients with Fabry cardiomyopathy before and after ERT. Read More

    The Carotid Intima-Media Thickness and Arterial Stiffness of Pediatric Mucopolysaccharidosis Patients Are Increased Compared to Both Pediatric and Adult Controls.
    Int J Mol Sci 2017 Mar 15;18(3). Epub 2017 Mar 15.
    Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN 55455, USA.
    Treatments for mucopolysaccharidoses (MPSs) have increased longevity, but cardiovascular disease causes mortality in a significant percentage of survivors. Markers must be developed to predict MPS cardiac risk and monitor efficacy of investigational therapies.MPS patients underwent carotid artery ultrasonography from which carotid intima-media thickness (cIMT) and three measures of arterial stiffness were calculated: carotid artery distensibility (cCSD), compliance (cCSC), and incremental elastic modulus (cIEM). Read More

    Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives.
    Expert Rev Mol Diagn 2017 Apr 20;17(4):307-309. Epub 2017 Feb 20.
    c BC Children's Hospital Research Institute, Centre for Molecular Medicine and Therapeutics, Department of Pediatrics , University of British Columbia , Vancouver , Canada.

    Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.
    JIMD Rep 2017 Mar 9. Epub 2017 Mar 9.
    Department of Pediatrics, University of California at San Francisco, 330 Post Street, 6th Floor, San Francisco, CA, USA.
    Extreme hyperhomocysteinemia with low cystathionine and cysteine is virtually diagnostic of cystathionine beta-synthase (CBS) deficiency since remethylation defects and hypermethioninemia due to other inborn errors cause elevated serum cystathionine. However, a pregnant CBS deficient patient was found to have elevated cystathionine in addition to elevated total homocysteine and methionine at 23 weeks of gestation and post-delivery cystathionine decreased to the lower level of normal. A second patient with cystathionine values during gestation also showed a rise from the low pre-pregnant value to massive elevation by delivery. Read More

    Dietary practices in isovaleric acidemia: A European survey.
    Mol Genet Metab Rep 2017 Sep 27;12:16-22. Epub 2017 Feb 27.
    Birmingham Children's Hospital, Birmingham, UK.
    Background: In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management.

    Aim: To describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014). Read More

    Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.
    Anal Biochem 2017 May 1;525:73-77. Epub 2017 Mar 1.
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
    Acid sphingomyelinase deficiency (ASMd, Niemann-Pick disease A/B) and Niemann-Pick type C disease (NPC) share core clinical symptoms. Initial diagnostic discrimination of these two rare lysosomal storage diseases is thus difficult. As sphingomyelin accumulates in ASMd as well as NPC, lysosphingomyelin (sphingosylphosphorylcholine) and its m/z 509 analog were suggested as biomarkers for both diseases. Read More

    Comparison of quantitative and qualitative tests for glucose-6-phosphate dehydrogenase deficiency in the neonatal period.
    Int J Lab Hematol 2017 Jun 4;39(3):251-260. Epub 2017 Mar 4.
    Shahid Beheshti University of Medical science, Tehran, Iran.
    Introduction: Considering the high prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among newborns, different screening methods have been established in various countries. In this study, we aimed to assess the prevalence of G6PD deficiency among newborns in Rasht, Iran, and compare G6PD activity in cord blood samples, using quantitative and qualitative tests.

    Methods: This cross-sectional, prospective study was performed at five largest hospitals in Rasht, Guilan Province, Iran. Read More

    Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
    J Inherit Metab Dis 2017 May 2;40(3):415-422. Epub 2017 Mar 2.
    Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, 48 Bd Sérurier, Paris, F-75935 Cedex 19, France.
    Background: Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency affects ketone body and isoleucine catabolism. Neurological impairment may occur secondary to ketoacidotic episodes. However, we observed neuromotor abnormalities without ketoacidotic events in two T2-deficient families. Read More

    Clinical Manifestation and Molecular Analysis of Three Korean Patients with the Renal Form of Pseudohypoaldosteronism Type 1.
    Ann Clin Lab Sci 2017 Jan;47(1):83-87
    Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea
    Pseudohypoaldosteronism (PHA) type 1 is a rare, heterogeneous disease characterized by hyponatremia and hyperkalemia due to mineralocorticoid resistance. The clinical features of PHA are usually failure to thrive, vomiting, and dehydration in the neonatal period. Heterozygous mutations in the Nuclear receptor subfamily 3, group C, member 2 (NR3C2) gene result in the dominant renal form of PHA type 1. Read More

    Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism.
    JIMD Rep 2017 Mar 1. Epub 2017 Mar 1.
    Division of Metabolism, Children's Research Center, University Children's Hospital, Zurich, Switzerland.
    Introduction: This study is part of the "European network and registry for intoxication type metabolic diseases" (E-IMD) project. Intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD) and organic acidurias (OA) have a major impact on patients' lives. Patients have to adhere to strict diet and medication and may suffer from metabolic crises and neurocognitive impairment. Read More

    Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.
    Diabetes Res Clin Pract 2017 Apr 16;126:144-150. Epub 2017 Feb 16.
    DIABGENE Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center SAS, Dubravska cesta 9, 845 05 Bratislava, Slovakia. Electronic address:
    Aim: Congenital hyperinsulinism (CHI) and glycogen storage disease (glycogenosis) are both causing hypoglycemia during infancy, but with different additional clinical features and therapeutic approach. We aimed to identify a genetic cause in a child with an ambiguous phenotype.

    Methods And Results: We present a child with hyperinsulinemic hypoglycemia, physiological 3-OH butyrate, increased triglyceride serum levels, increased level of glycogen in erythrocytes, increased liver transaminases, and increased echogenicity on liver ultrasonography. Read More

    Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.
    BMC Neurol 2017 Feb 28;17(1):47. Epub 2017 Feb 28.
    Department of Neurology, Kansai Medical University, 2-5-1, Shinmachi, Hirakata, Osaka, 5731010, Japan.
    Background: Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of metabolism inherited in autosomal recessive pattern and is associated with a wide spectrum of neurological abnormalities.

    Case Presentation: We herein describe a 15-year-old boy with MTHFR deficiency who presented with a slowly progressive decline of school performance and a spastic gait. Rapidly deteriorating psychosis and repetitive seizures triggered by a febrile infection prompted neurological investigation. Read More

    Electro-clinical-etiological associations of epilepsia partialis continua in 57 Chinese children.
    Brain Dev 2017 Jun 21;39(6):506-514. Epub 2017 Feb 21.
    Department of Pediatrics, Peking University First Hospital, No. 1, Xi'anmen Street, Xicheng District, Beijing 100034, China. Electronic address:
    Objective: Epilepsia partialis continua (EPC) was one type of focal status epilepticus. The aim of this study was to analyze the clinical and electroencephalography (EEG) characteristics, and outcome of 57 child-onset patients with EPC according to different etiologies, and further explore the electro-clinical-etiological associations.

    Methods: We retrospectively reviewed 57 children diagnosed with EPC in our department over last ten years. Read More

    Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
    Ann Lab Med 2017 May;37(3):261-266
    Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
    Background: Molecular techniques are fundamental for establishing an accurate diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed to evaluate SLC37A4 mutation spectrum in Korean GSD Ib patients.

    Methods: Nine Korean patients from eight unrelated families with GSD Ib were included. Read More

    Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency.
    Neuropediatrics 2017 Apr 13;48(2):127-130. Epub 2017 Feb 13.
    Division of Neuropediatrics, Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany.
    GM2 gangliosidosis, AB variant, is a very rare form of GM2 gangliosidosis due to a deficiency of GM2 activator protein. We report on two patients with typical clinical features suggestive of GM2 gangliosidosis, but normal results for hexosaminidase A and hexosaminidase B as well as their corresponding genes. Genetic analysis of the gene encoding the activator protein, the GM2A gene, elucidated the cause of the disease, adding a novel mutation to the spectrum of GM2 AB variant. Read More

    Congenital Hemolytic Anemia.
    Med Clin North Am 2017 Mar 8;101(2):361-374. Epub 2016 Dec 8.
    Department of Pediatrics, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, 3181 Southwest Sam Jackson Park Road, Mail Code CDRCP, Portland, OR 97239, USA. Electronic address:
    Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. Read More

    Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia.
    J Chromatogr B Analyt Technol Biomed Life Sci 2017 Mar 6;1046:195-199. Epub 2017 Feb 6.
    Department of Hospital Pharmacy, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya, Japan. Electronic address:
    Propionic acidemia (PA) is an inherited metabolic disease caused by low activity of propionyl coenzyme A (CoA) carboxylase (PCC), which metabolizes propionyl-CoA into methylmalonyl-CoA. Although many patients with PA have been identified by tandem mass spectrometry since the test was first included in neonatal mass screening in the 1990s, the disease severity varies. Thus, determining the specific level of PCC activity is considered to be helpful to grasp the severity of PA. Read More

    Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.
    Orphanet J Rare Dis 2017 Feb 10;12(1):28. Epub 2017 Feb 10.
    Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
    Background: Sialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome. These disorders are caused by mutations in SLC17A5, the gene encoding sialin, a sialic acid transporter located in the lysosomal membrane. The most common form of sialic acid storage disease is the slowly progressive Salla disease, presenting with hypotonia, ataxia, epilepsy, nystagmus and findings of cerebral and cerebellar atrophy. Read More

    Life-threatening bleeding from gastric mucosal angiokeratomas during anticoagulation: A case report of Fabry disease.
    Medicine (Baltimore) 2017 Feb;96(6):e6063
    aDepartment of Pediatrics, Asan Medical Center Children's Hospital bDivision of Cardiology, Cardiac Imaging Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
    Rationale: Angiokeratomas are the earliest manifestation of Fabry disease (FD), and the extent of their appearance is related to disease severity. Angiokeratomas are mostly found on cutaneous regions.

    Patient Concerns, Diagnoses, Interventions, And Outcomes: Here we report an FD patient with widespread gastrointestinal angiokeratomas who developed life-threatening bleeding following anticoagulation for atrial fibrillation. Read More

    A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation.
    BMC Neurol 2017 Feb 6;17(1):25. Epub 2017 Feb 6.
    Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
    Background: Patients with the later-onset IVS4+919G>A (IVS4) Fabry mutation are known to have positive central nervous system involvement compared with age- and sex-matched controls. This study compares central nervous system manifestations in patients with the IVS4 mutation or classical Fabry mutations.

    Methods: This was a retrospective analysis of magnetic resonance imaging (MRI) data from Taiwanese patients enrolled in the Fabry Outcome Survey (sponsored by Shire; data extracted March 2015). Read More

    Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center.
    Nephrol Ther 2017 May 1;13(3):176-182. Epub 2017 Feb 1.
    Department of general surgery, Ain Shams University, El-Khalifa El-Maamoun, Al Waili, 11588 Cairo, Egypt.
    Background And Aim: Primary hyperoxalurias are rare inborn errors of metabolism resulting in increased endogenous production of oxalate that leads to excessive urinary oxalate excretion. Diagnosis of primary hyperoxaluria type 1 (PH1) is a challenging issue and depends on diverse diagnostic tools including biochemical analysis of urine, stone analysis, renal biopsy, genetic studies and in some cases liver biopsy for enzyme assay. We characterized the clinical presentation as well as renal and extrarenal phenotypes in PH1 patients. Read More

    Analysis of Children and Adolescents with Familial Hypercholesterolemia.
    J Pediatr 2017 Apr 1;183:100-107.e3. Epub 2017 Feb 1.
    Department of Internal Medicine and Allied Sciences, Sapienza University of Rome, Rome, Italy. Electronic address:
    Objective: To evaluate the effectiveness of criteria based on child-parent assessment in predicting familial hypercholesterolemia (FH)-causative mutations in unselected children with hypercholesterolemia.

    Study Design: LDLR, APOB, and PCSK9 genes were sequenced in 78 children and adolescents (mean age 8.4 ± 3. Read More

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