Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
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Muhlhausen C, Christensen E, Schwartz M, Muschol N, Ullrich K, Lukacs Z
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
J Inherit Metab Dis. 2003;26(7):713-4.
- PubMed ID
- 14707522 [ View in PubMed]
- Abstract
We report the first patient with the homozygous GCDH mutation M263V, displaying a high residual activity in fibroblasts of 30%, but presenting with a severe clinical phenotype.