Glutaric aciduria
The multiple acyl coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic adipic aciduria Mitochondrial fatty acid oxidation, acyl coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts
... The multiple acyl-coenzyme A (CoA) dehydrogenation disorders (MAD) include severe (S) and mild (M) variants, glutaric aciduria type II (MAD:S) and ethylmalonic-adipic aciduria (MAD:M). Intact MAD:M ...
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Biosynthesis of electron transfer flavoprotein in a cell free system and in cultured human fibroblasts Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II
... six glutaric aciduria type II (GAII) and two ethylmalonic-adipic aciduria cell lines, defective p alpha-ETF synthesis was observed in three GAII cell lines, and beta-ETF synthesis was ...
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Clinical features and course of glutaric aciduria-Report of six cases.
... Glutaric aciduria forms a rare group of metabolic diseases with treatment options if diagnosed ...3‑OH glutaric acid and presents with hypoglycemia, vomiting, sweaty feet, chorea and failure to ...
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Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts
... Using cultured skin fibroblasts, we studied the heterogeneity of inborn errors of leucine metabolism such as isovaleric acidemia (IVA), glutaric aciduria type II (GA II), and multiple carboxylase deficiency ...
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What are the information needs of parents caring for a child with Glutaric aciduria type 1?
... Background: Newborn screening has enabled the early diagnosis of Glutaric aciduria type 1, with the possibility of improving neurological outcomes in affected children. Achieving those outcomes requires ...
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Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report
... 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 ...
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Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis
... DALY: Disability adjusted life year; GA-I: Glutaric aciduria type 1; GDP: Gross domestic product; ICER: Incremental cost-effectiveness ratio; MS/MS: Electrospray- ionization tandem mass [r] ...
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Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I
... GA1 provides a prototypical model for metabolic stroke as more than 90% of children with this disease will experi- ence bilateral basal ganglia injury if not identified and treated pre-symptomatically [9,10]. The ...
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Specific glutaryl CoA dehydrogenating activity is deficient in cultured fibroblasts from glutaric aciduria patients
... We developed a new assay specific for glutaryl-CoA dehydrogenation which measures enzyme-catalyzed tritium release from [2,3,4-3H]glutaryl-CoA, and we studied the glutaryl-CoA dehydrogen[r] ...
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A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I
... (3) Developmental functions of GA-I patients were different from those of healthy controls for motor speed and visual search but not for visual working memory (a test with higher cogniti[r] ...
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Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity
... With the aim of better characterizing and understanding late-onset GA1 we systematically evalu- ated clinical findings, biochemical phenotype (high/low excretor), and MRI changes in a sa[r] ...
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Glutaric Aciduria Type 1 and Nonaccidental Head Injury
... We present a case of ethylene glycol poisoning in a child where use of fomepizole averted intravenous ethanol infusion and hemodialysis, limited the duration of intensive care mon- itori[r] ...
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Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency
... “glutaric aciduria type 2”, “glutaric acidemia type 2”, “ETFDH”, “ETFA” and “ETFB” in order to obtain comprehensive information on the clinical course of MADD patients with late onset of the disease ...
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Ethylmalonic Adipic Aciduria: IN VIVO AND IN VITRO STUDIES INDICATING DEFICIENCY OF ACTIVITIES OF MULTIPLE ACYL CoA DEHYDROGENASES
... The mechanisms underlying ethylmalonic-adipic aciduria were studied in a 5-yr-old girl. Oxidation of radioactive substrates by cultured skin fibroblasts from the proband and asymptomatic family members was also ...
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Dentate Update: Imaging Features of Entities That Affect the Dentate Nucleus
... Even before the acute decompensation stage, patients with glutaric aciduria type 1 almost invariably have bilateral, cystlike widening of the Sylvian fissures and mesencephalic cistern, [r] ...
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Glutaric Acidemia Type I- A Case Report in an Egyptian patient
... A 4 years old male, 6th order of birth of 1st cousin consanguineous Egyptian parents. The patient was delivered at full term by cesarean section. His birth weight was 2.500 kg. No problems were noted by the mother ...
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Cobalamin C Deficiency in an Adolescent With Altered Mental Status and Anorexia
... Follow-up laboratory values several weeks into treatment demonstrated undetect- able homocystine and higher methionine levels on PAA pro fi le, lower plasma total homocysteine levels, normalized acylcarnitine pro fi le, ...
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Novel mutations underlying argininosuccinic aciduria in Saudi Arabia
... Argininosuccinic aciduria (ASAuria; OMIM 207900) or argininosuccinate lyase (ASL; EC 4.3.2.1) deficiency is an autosomal recessive inborn error of the urea cycle. ASL catalyses the reversible cleavage of ...
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Clinical and Biochemical Phenotype in 11 Patients With Mevalonic Aciduria
... The site of the defect in patients with mevalonic aciduria is mevalonate kinase (solid square), following 3-hydroxy- 3-methylglutaryl-coenzyme A (HMG-CoA) reductase, the rate- limiting e[r] ...
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THE VARIABILITY IN MANIFESTATIONS OF UNTREATED PATIENTS WITH PHENYLKETONURIA (PHENYLPYRUVIC ACIDURIA)
... patients from the Wrentham State School who.. were tested by a psychologist from the Chil-.[r] ...
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