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Article

[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 May 2016

Wang Qiao, Yang Yan-Ling

Abstract excerpt

Glutaric aciduria type 1 is a rare autosomal recessive disorder. GCDH gene mutations cause glutaryl-CoA dehydrogenase deficiency and accumulation of glutaric acid and 3-hydroxyglutaric acid, resulting in damage of striatum and other brain nucleus and neurodegeneration. Patients with glutaric aciduria type 1 present with complex heterogeneous phenotypes and genotypes. The symptoms are extremely variable. The ages...

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Source

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Identifiers

PMID: 27165598
PMCID: PMC7390359

Genes

GCDH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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