Abstract
Glutaric Aciduria type I is a recessive inborn error of metabolism caused by deficiency of glutaryl-CoA dehydrogenase. This enzyme is responsible for catabolism of L-lysine, L-hydroxylysine, and L-tryptophan. Deficiency of this enzyme leads to abnormal accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine. Untreated individuals are at extremely high risk for encephalopathic crisis, usually triggered by an intercurrent illness or other stressor, and typically occurring between 3 and 36 months of age. This crisis classically results in bilateral striatal injury. Treatment, which can help to prevent encephalopathic crises, includes dietary lysine restriction, carnitine supplementation, and careful metabolic management during intercurrent illness.
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