glutaric acidemia, type i (ga i), was first described in 1975. the disease is caused by a genetic deficiency of the enzyme, glutaryl-coa dehydrogenase (gcd), which leads to the buildup of glutaric acid in the tissues and its excretion in the urine of affected patients. gcd is involved in the catabolism of the amino acids, lysine, hydroxylysine, and tryptophan. over 200 cases of ga i have been r...

Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation. In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC...

The ethylmalonic encephalopathy protein 1 (ETHE1) catalyses the oxygen-dependent oxidation of glutathione persulfide (GSSH) to give persulfite and glutathione. Mutations to the hETHE1 gene compromise sulfide metabolism leading to the genetic disease ethylmalonic encephalopathy. hETHE1 is a mono-iron binding member of the metallo-β-lactamase (MBL) fold superfamily. We report crystallographic ana...

Glutaric aciduria type 1 is a rare inherited organic academia. Untreated patients characteristically develop dystonia secondary to striatal injury during early childhood, which results in high morbidity and mortality. In patients diagnosed during neonatal period, striatal injury can be prevented by metabolic treatment including low lysine diet, carnitine supplementation and aggressive emergency...

Glutaric aciduria type 1 is an autosomal recessive metabolic disorder caused by a deficiency of glutaryi-CoA dehydrogenase. This disorder is characterized by progressive dystonia and dyskinesia. Laboratory evaluation demonstrates excessive levels of glutaric acid urinary excretion as well as absence of demonstrable functional levels of glutaryi-CoA in fibroblast cultures. We present the CT and ...

Methylmalonic aciduria is an inborn error in the organic acids metabolism. Deficiency of methylmalonyl CoA mutase or its coenzyme, adenosylcobalamine, leads to accumulation of methymalonic acid in body fluids. The disease manifests with recurrent episodes of dehydration, metabolic acidosis, coma and death. We report a case of methylmalonic aciduria diagnosed in a female infant who presented wit...

The industrial solvent trichloroethylene (TCE) has been reported to increase the excretion of formic acid in the urine of male Fischer 344 (F-344) rats following large oral doses. We have examined the dose-response relationship for formic aciduria in male and female Fischer 344 rats, the effect of some known metabolites of TCE and examined the response in male Wistar rats to help understand its...