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Article

Type I glutaric aciduria, part 1: natural history of 77 patients.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Aug 2003

Strauss Kevin A, Puffenberger Erik G, Robinson Donna L, Morton D Holmes

Abstract excerpt

Type I glutaric aciduria (GA1) results from mitochondrial matrix flavoprotein glutaryl-CoA dehydrogenase deficiency and is a cause of acute striatal necrosis in infancy. We present detailed clinical, neuroradiologic, molecular, biochemical, and functional data on 77 patients with GA1 representative of a 14-year clinical experience. Microencephalic macrocephaly at birth is the earliest sign of GA1 and is...

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PMID: 12888985
DOI: 10.1002/ajmg.c.20007

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