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Article

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

Journal of inherited metabolic disease - 1 Jan 2003

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

Abstract excerpt

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.

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Source

Identifiers

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

Genes

GCDH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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