Abstract
Background and objective Mutations in glutaryl-CoA dehydrogenase gene causes Glutaric Acidemia type I (GA-I), an autosomal recessive, metabolic disorder which leads to accumulation of Glutaric Acid, 3-Hydroxyglutaric acid, Glutaconic Acid and Glutarylcarnitine (C5DC). There are no studies that correlate the genotype with biochemical profile in patients with GA-I from India. The objective of this study was to screen Indian patients with GA-I, for common mutations such as R402W, A421V, A293T, R227P and V400M and to correlate the genotype profile of the patients with C5DC levels.
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