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...

Glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency) is an inborn error of metabolism that usually manifests in infancy by an acute encephalopathic crisis and often results in permanent motor handicap. Biochemical hallmarks of this disease are elevated levels of glutarate and 3-hydroxyglutarate in blood and urine. The neuropathology of this disease is still poorly understood, as low...

Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency, glutaric acidemia 1) (OMIM 231670) is an autosomal recessive disease caused by mutations in the gene encoding enzyme glutaryl-CoA (GCDH). Glutaryl-CoA (GCDH) plays important role degradation metabolism of L-lysine, L-hydroxylysine and L-tryptophan. The insufficiency or absence leads to accumulation by-products such amino acids as ...

Glutaric acid has been shown to be metabolized in part to acetoacetate and acetate in the rat, most probably by way of butyrate or acetonedicarboxylate (1). In addition, it was pointed out that part of the glutaric acid might also be converted to a-ketoglutarate by a more or less direct pathway. Study of the metabolism of lysine-6-Cl4 (2) has since provided substantial evidence in favor of this...

objectiveglutaric aciduria type 1 (gal 1) is a cerebral organic academia, which manifests as encephalopathy with long-term neurological handicap. in this study, clinical presentation, neuroimaging, molecular finding of cgdh mutation of our patients were reviewed.materials and methodsthis was a descriptive and cross-sectional study. patients in whom gla1 were suspected by clinical manifestation,...

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The case of an 8-year-old boy complaining easy tiredness, poor exercise tolerance and high CPK blood level is described. diagnosis glutaric aciduria type II was finally made.

Glutaric Aciduria type I (GA-I) is a rare organic acidemia, caused by mutations in the GCDH gene, and characterized by encephalopathic crises with neurological sequelae. We report herein a patient with GA-I who presented with severe acute renal failure requiring dialysis, following an acute diarrheal illness. Histopathological evaluation demonstrated acute tubular necrosis, and molecular diagno...