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Case Report: Severe phenotype despite high residual glutaryl‐CoA dehydrogenase activity: A novel mutation in a Turkish patient with glutaric aciduria type I
Author(s) -
Mühlhausen C.,
Christensen E.,
Schwartz M.,
Muschol N.,
Ullrich K.,
Lukacs Z.
Publication year - 2003
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000005604.90621.e2
Subject(s) - phenotype , mutation , medicine , genetics , residual , endocrinology , biology , pediatrics , bioinformatics , gene , algorithm , computer science
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.