Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition.

Abstract excerpt

Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric aciduria type I (GA I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia, biochemically by excretion of glutaric and 3-hydroxyglutaric acids in urine, and pathologically by neural degeneration of the caudate and putamen. To date, over 70 mutations in GCDH gene have been identified, single prevalent mutations have...

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