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    11366 results match your criteria Pediatrics Inborn Errors of Metabolism

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    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

    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

    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 Jan 7. 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

    Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.
    J Paediatr Child Health 2017 Mar 24. 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

    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

    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 Mar 9. 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

    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

    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

    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 Feb 18. Epub 2017 Feb 18.
    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

    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 Feb 1. 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

    Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
    Am J Hum Genet 2017 Feb 26;100(2):257-266. Epub 2017 Jan 26.
    UMR1141, PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris 75019, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris 75019, France. Electronic address:
    Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harbor mutations in the gene encoding phenylalanine hydroxylase (PAH), and a small proportion (2%) exhibit tetrahydrobiopterin (BH4) deficiency with additional neurotransmitter (dopamine and serotonin) deficiency. Here we report six individuals from four unrelated families with HPA who exhibited progressive neurodevelopmental delay, dystonia, and a unique profile of neurotransmitter deficiencies without mutations in PAH or BH4 metabolism disorder-related genes. Read More

    Development of a new UPLC-ESI-MS/MS method for the determination of biopterin and neopterin in dried blood spot.
    Clin Chim Acta 2017 Mar 18;466:145-151. Epub 2017 Jan 18.
    Department of Experimental Medicine, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy. Electronic address:
    Background: (6R)-5,6,7,8-tetrahydrobiopterin (BH4) deficiencies are rare inherited defects of synthesis or regeneration of BH4. Due to the resulting hyperphenylalaninemia (HPA), some of them are detected by newborn screening and require the assessment of the pattern of neopterin (Neo) and biopterin (Bio) excretion in urine to be confirmed. Aim of present study was to develop a method for the measurement of these diagnostic biomarkers in dried blood spot (DBS). Read More

    Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation.
    Clin Chim Acta 2017 Mar 18;466:185-193. Epub 2017 Jan 18.
    Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC; Institute of Clinical Medicine, National Yang-Ming University, School of Medicine, Taipei, Taiwan, ROC.
    Background: Fabry disease is a lysosomal storage disorder with an incidence of 1:1600 for the late-onset IVS4+919G>A cardiac variant mutation in Taiwan. Signs and symptoms of this cardiac variant include left ventricular hypertrophy, mitral insufficiency and/or arrhythmias. The search for biomarkers that might predict the clinical outcomes and guide treatment options is important. Read More

    Case 2-2017. An 18-Year-Old Woman with Acute Liver Failure.
    N Engl J Med 2017 01;376(3):268-278
    From the Departments of Medicine (K.R.O., E.A.S.), Pediatrics (K.R.O.), Radiology (A.H.D.), Surgery (N.E.), and Pathology (J.M.), Massachusetts General Hospital, and the Departments of Medicine (K.R.O., E.A.S.), Pediatrics (K.R.O.), Radiology (A.H.D.), Surgery (N.E.), and Pathology (J.M.), Harvard Medical School - both in Boston.

    Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.
    Hum Pathol 2017 Apr 11;62:160-169. Epub 2017 Jan 11.
    Pathology Department Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris, Université Sorbonne Paris Cité, 75015, Paris, France. Electronic address:
    Lysinuric protein intolerance (LPI) is a rare autosomal recessive disease caused by mutations in the SLC7A7 gene encoding the light subunit of a cationic amino acid transporter. Symptoms mimic primary urea cycle defects but dysimmune symptoms are also described. Renal involvement in LPI was first described in the 1980s. Read More

    Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey.
    Int J Mol Sci 2017 Jan 9;18(1). Epub 2017 Jan 9.
    Department of Pediatrics, Taipei Veterans General Hospital, Taipei 112, Taiwan.
    We retrospectively evaluated correlations between cardiac manifestations and globotriaosylceramide (Gb3) accumulation in cardiomyocytes from Taiwanese patients with Fabry disease and the IVS4+919G>A (IVS4) mutation who underwent endomyocardial biopsy (Shire; Fabry Outcome Survey data; extracted January 2015). Of 24 males and six females (median age [Q1; Q3] at biopsy 60.4 [57. Read More

    Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults.
    Exp Clin Endocrinol Diabetes 2017 Mar 10;125(3):196-201. Epub 2017 Jan 10.
    Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
    Background The management of congenital adrenal hyperplasia (CAH) from pediatric to adulthood is challenging to achieve optimal growth and puberty. This study characterizes the clinical outcomes of 21-hydroxylase deficiency. Methods 53 CAH patients were included (33 females, 15 and 18 patients with the salt-wasting [SW] and simple-virilizing [SV] forms; and 20 males, 16 and 4 patients with the SW and SV forms). Read More

    Prolonged indirect hyperbilirubinemia in a moderately preterm boy with Mediterranean glucose-6-phosphate dehydrogenase and glutathione S-transferase Mu 1 null mutations.
    BMJ Case Rep 2017 Jan 9;2017. Epub 2017 Jan 9.
    Department of Pediatrics, King Abdulaziz Hospital, MNGHA, Al-Ahsa, Saudi Arabia.
    A 33-week gestation boy with Mediterranean glucose-6-phosphate dehydrogenase (G6PD) and a glutathione S-transferase Mu 1 null mutations (GSTM1*0/*0) developed prolonged indirect hyperbilirubinemia (PIH). He had no laboratory evidence of haemolysis or infection, and no exposure to oxidising agents. He has two full-term older brothers who have no history of neonatal hyperbilirubinemia. Read More

    Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan.
    Brain Dev 2017 May 4;39(5):422-425. Epub 2017 Jan 4.
    Department of Clinical Laboratory Medicine, National Center for Child Health and Development, Tokyo, Japan; Center for Lysosomal Storage Diseases, National Center for Child Health and Development, Tokyo, Japan.
    Background: Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, aspartylglucosaminidase (AGA). This disorder is rare in the general population except in Finland. Since the most characteristic feature of this disorder is a progressive developmental regression, patients often show no specific symptoms in the initial stages, and thus early diagnosis is often challenging. Read More

    Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria.
    J Korean Med Sci 2017 Feb;32(2):310-314
    Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
    Cystinuria is an inherited disorder characterized by defective renal reabsorption of cystine and dibasic amino acids leading to nephrolithiasis. This study was conducted to analyze the genotypes and phenotypes of pediatric patients with cystinuria. Eight children from Seoul National University Hospital and Asan Medical Center presenting with cystinuria from January 2003 to June 2016 were retrospectively analyzed. Read More

    Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
    Nucleosides Nucleotides Nucleic Acids 2017 Feb 3;36(2):151-157. Epub 2017 Jan 3.
    b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego, La Jolla , CA , USA.
    Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report three novel independent mutations in the coding region of the HPRT1 gene from genomic DNA of (a) a carrier sister of two male patients with LND: c.569G>C, p. Read More

    Disruption of the gaa Gene in Zebrafish Fails to Generate the Phenotype of Classical Pompe Disease.
    DNA Cell Biol 2017 Jan;36(1):10-17
    1 Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University , Shanghai, China .
    The underlying pathogenic lesions of glycogen storage disease type II (GSD II) and the diversity of this disease among different species are still under exploration. Thus, we created an acid alpha-glucosidase (gaa) gene-mutated zebrafish model of GSD II and examined the sequential pathogenic changes. gaa mRNA and protein expression, enzymatic activity, and lysosomal glycogen accumulation were assessed, and the phenotypic changes were compared between wild-type (WT) and gaa-mutated zebrafish. Read More

    Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency.
    Ann Lab Med 2017 Mar;37(2):108-116
    Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.
    Background: We describe the genetic profiles of Korean patients with glucose-6-phosphate dehydrogenase (G6PD) deficiencies and the effects of G6PD mutations on protein stability and enzyme activity on the basis of in silico analysis.

    Methods: In parallel with a genetic analysis, the pathogenicity of G6PD mutations detected in Korean patients was predicted in silico. The simulated effects of G6PD mutations were compared to the WHO classes based on G6PD enzyme activity. Read More

    Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.
    Korean J Pediatr 2016 Nov 30;59(Suppl 1):S45-S48. Epub 2016 Nov 30.
    Department of Pediatrics, Chungnam National University School of Medicine, Daejeon, Korea.
    Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so they remain largely symptomless metabolic disease. Read More

    CAD mutations and uridine-responsive epileptic encephalopathy.
    Brain 2017 Feb 21;140(Pt 2):279-286. Epub 2016 Dec 21.
    Institute of Human Genetics, Technische Universität München, Munich, Germany
    Unexplained global developmental delay and epilepsy in childhood pose a major socioeconomic burden. Progress in defining the molecular bases does not often translate into effective treatment. Notable exceptions include certain inborn errors of metabolism amenable to dietary intervention. Read More

    Mucopolysaccharidosis IVA and glycosaminoglycans.
    Mol Genet Metab 2017 Jan - Feb;120(1-2):78-95. Epub 2016 Nov 29.
    Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States. Electronic address:
    Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS). C6S and KS are mainly produced in the cartilage. Read More

    Spine malformation complex in 3 diverse syndromic entities: Case reports.
    Medicine (Baltimore) 2016 Dec;95(50):e5505
    aLudwig Boltzmann Institute of Osteology, the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital bOrthopaedic Hospital of Speising, Paediatric Department cDepartment of Pediatrics, Kaiser-Franz-Josef Spital, Vienna, Austria dAxial Skeleton and Neurosurgery Department, Restorative Traumatology and Orthopaedics, Ilizarov Center, Kurgan, Russia ePediatric Orthopedic Institute n.a. H. Turner, Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Saint-Petersburg, Russia fInstitute of Medical Chemistry, Medical University of Vienna, Austria.
    Rationale: Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity.

    Patients Concerns: Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes. Read More

    Case 34-2016. A 17-Year-Old Boy with Myopia and Craniofacial and Skeletal Abnormalities.
    N Engl J Med 2016 11;375(19):1879-1890
    From the Departments of Pediatrics (D.A.S., A.E.L.), Oral and Maxillofacial Surgery (M.J.T.), and Radiology (S.J.W.), Massachusetts General Hospital, the Departments of Pediatrics (D.A.S., A.E.L.), Ophthalmology (T.C.C.), and Radiology (S.J.W.), Harvard Medical School, the Department of Oral and Maxillofacial Surgery, Harvard School of Dental Medicine (M.J.T.), and the Department of Ophthalmology, Massachusetts Eye and Ear Infirmary (T.C.C.) - all in Boston.

    Historical Perspective on Clinical Trials of Carnitine in Children and Adults.
    Ann Nutr Metab 2016 9;68 Suppl 3:1-4. Epub 2016 Dec 9.
    Department of Pediatrics and Medical Genetics, Oregon Health and Science University, Portland, Oreg., USA.
    The metabolic roles of carnitine have been greatly clarified over the past 50 years, and it is now well established that carnitine is a key player in mitochondrial generation of energy and metabolism of acetyl coenzyme A. A therapeutic role for carnitine in treatment of nutritional deficiencies in infants and children was first demonstrated in 1958, and since that time it has been used to treat a number of inborn errors of metabolism. Carnitine was approved by the US Food and Drug Administration in 1985 for treatment of 'primary carnitine deficiency', and later in 1992 for treatment of 'secondary carnitine deficiency', a definition that included the majority of relevant metabolic disorders associated with low or abnormal plasma carnitine levels. Read More

    Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.
    Ann Nutr Metab 2016 9;68 Suppl 3:5-9. Epub 2016 Dec 9.
    Department of Pediatrics and Pathology, ARUP Laboratories, University of Utah, Salt Lake City, Utah, USA.
    Carnitine is needed for transfer of long-chain fatty acids across the inner mitochondrial membrane for subsequent β-oxidation. Carnitine can be synthesized by the body and is also obtained in the diet through consumption of meat and dairy products. Defects in carnitine transport such as those caused by defective activity of the OCTN2 transporter encoded by the SLC22A5 gene result in primary carnitine deficiency, and newborn screening programmes can identify patients at risk for this condition before irreversible damage. Read More

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