Glutaric aciduria type 1
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 ...
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Glutaric Aciduria Type 1 and Nonaccidental Head Injury
... Table 1 indicates, fomepizole has the potential to reduce the cost of treating this intoxication by at least ...Table 1 does not include costs typi- cally associated with intensive care monitoring, such as ...
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Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis
... For children affected by sMD, additional costs includ- ing special care and schooling were considered in the model. It is very likely that severely affected individuals will require a higher frequency of medical ...
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Glutaric Acidemia Type I- A Case Report in an Egyptian patient
... with glutaric aciduria type 1. At birth, GA 1 diagnosis was suspected and confirmed by the quantification of organic acids in the urine and dried blood using MS/MS and GC/MS, and ...
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Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I
... for 1 h at 4°C and incubated with monoclonal antibodies against Occludin, ZO-1 (both from Zymed, South San Francisco, CA, USA), Hypoxia inducible factor 1 alpha (HIF-1α) (RD System, Abingdon, ...
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A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I
... mouse pointer to the randomly changing direction of the smiley. In contrast, stability in continuous performance (CP) is measured by variation of reaction times in a repeti- tive motor task. Overall slower and faster ...
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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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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 ...
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Clinical features and course of glutaric aciduria-Report of six cases.
... is a single peroxisomal enzyme defect causing very long‑chain fatty acid deficiency and has got an entirely different clinicoradiological presentation which includes adrenoleucodystrophy and adrenomyeloneuropathies. ...
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Ethylmalonic Adipic Aciduria: IN VIVO AND IN VITRO STUDIES INDICATING DEFICIENCY OF ACTIVITIES OF MULTIPLE ACYL CoA DEHYDROGENASES
... Oxidation of [1- 14 C]butyrate by cultured skin fibroblasts from the proband was reduced to 14% of control. In vitro oxidation of [2- 14 C]lysine and [2- 14 C]leucine was also reduced to 28 and 23% of control, ...
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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 ...
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Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report
... Perinatal asphyxia (PA) occurs in about 2 to 10 per 1000 live full-term births, due to oxygen deprivation during labour of sufficient duration to cause injury, mostly to the brain. Although neonatal epileptic seizures ...
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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 ...
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AMINO ACIDURIA AND ASCORBIC ACID DEFICIENCY
... rickets.3 Augmented outputs of serine plus threonine, glycine plus alanine histidine, ly-.. COMPARISON OF THE ELEVATED AMINO ACID EXCRETION WITH PLASMA LEVELS IN VARIOUS DISEASES WITH AM[r] ...
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Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism
... 3-MGC aciduria re- flects a defect in mitochondrial energy metabolism and that her mild orotic aciduria may be a nonspecific marker of mitochondrial ...
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Acute Profound Dystonia in Infants With Glutaric Acidemia
... Unusual features in our patients included the acute onset of signs without metabolic acidosis, early radiologic abnormalities noted in the brains, pathologic demonstration of vacuolation[r] ...
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Novel mutations underlying argininosuccinic aciduria in Saudi Arabia
... To determine the effect of the novel splice-donor site mutation detected in intron 13 with respect to mRNA splicing, a fragment comprising exon 12, 13 and 14 of ASL was amplified using RT-PCR with mRNA isolated from ...
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The Use of Neomycin in the Treatment of Methylmalonic Aciduria
... There was a marked drop in urinary excretion of methylmalonic acid and in the plasma level of this metabolite during both trials of neomycin therapy. These results are depicted graphical[r] ...
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Prenatal Diagnosis of Methylmalonic Aciduria
... Quantitation of the abnormal methylmalonic acid peak showed the concentration to be 9 .sgs/ml compared with a normal range ofO to 0.1 tg/ml (Fig. Two cultures of amniotic cells were grow[r] ...
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3-Methylglutaconic Aciduria: A New Variant
... rent infections, and normal cognitive development with x-linked inheritance was described.’3 In spite of the similarity with 3-methylglutaconic acid excretion, this group is different in[r] ...
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