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Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations

✍ Scribed by Stephen I. Goodman; Donna E. Stein; Sudha Schlesinger; Ernst Christensen; Marianne Schwartz; Cheryl R. Greenberg; Orly N. Elpeleg

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 245 KB
Volume: 12
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1998)12:3<141::aid-humu1>3.0.co;2-k

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✦ Synopsis

Glutaric acidemia type I (GA1

) is caused by mutations in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCD). Sixty-three pathogenic mutations identified by several laboratories are presented, 30 of them for the first time, together with data on expression in Escherichia coli and relationship to the clinical and biochemical phenotype. In brief, many GCD mutations cause GA1, but none is common. There is little if any relationship between genotype and clinical phenotype, but some mutations, even when heterozygous, seem especially common in patients with normal or only minimally elevated urine glutaric acid.

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