Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I

C Mühlhausen; E Christensen; M Schwartz; N Muschol; K Ullrich; Z Lukacs

doi:10.1023/b:boli.0000005604.90621.e2

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. doi: 10.1023/b:boli.0000005604.90621.e2.

Authors

C Mühlhausen¹, E Christensen, M Schwartz, N Muschol, K Ullrich, Z Lukacs

Affiliation

¹ Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany. muelhau@uke.uni-hamburg.de

PMID: 14707522
DOI: 10.1023/b:boli.0000005604.90621.e2

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.

Publication types

Case Reports

MeSH terms

DNA Mutational Analysis
Female
Fibroblasts / enzymology
Genotype
Glutarates / urine*
Glutaryl-CoA Dehydrogenase
Humans
Infant
Lipid Metabolism, Inborn Errors / genetics*
Oxidoreductases Acting on CH-CH Group Donors / genetics*
Phenotype

Substances

Glutarates
Oxidoreductases Acting on CH-CH Group Donors
Glutaryl-CoA Dehydrogenase
glutaric acid