Last update 01 Nov 2024

Glutaric Acidemia I

Basic Info

Synonyms
GA I, GA1, GCDHD
+ [28]
Introduction
A rare autosomal recessive inherited metabolic disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase. It is characterized by abnormalities in the metabolism of lysine, hydroxylysine, and tryptophan that result in the accumulation and urinary excretion of glutaric acid. Patients present with brain atrophy, microcephaly, and acute dystonia.

Analysis

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