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Article

Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.

Molecular genetics and metabolism - 1 Mar 2011

Mushimoto Yuichi, Fukuda Seiji, Hasegawa Yuki, Kobayashi Hironori, Purevsuren Jamiyan, Li Hong, Taketani Takeshi, Yamaguchi Seiji

Abstract excerpt

Glutaric acidemia type 1 (GA1) is a metabolic disease caused by a deficiency of glutaryl-CoA dehydrogenase (GCDH). Untreated patients mostly develop severe striatal degeneration. More than 200 mutations have been reported in the GCDH gene, and common R402W and IVS10-2A>C were found in Caucasian a...

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Source

Identifiers

PMID: 21176883
DOI: 10.1016/j.ymgme.2010.11.159

Genes

GCDH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21176883-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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