glutaricaciduria type I

glutaricaciduria type I
a disorder caused by mutation in the GCDH gene (locus: 19p13.2), resulting in a deficiency of glutaryl-CoA dehydrogenase; 3-hydroxyglutaric acid is excreted in addition to glutaric acid, and there are progressive dystonia and dyskinesia, hypoglycemia, mild ketosis and acidosis, opisthotonus, choreoathetosis, seizures, motor delay, hypotonia, and death within the first decade of life.

Medical dictionary. 2011.

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