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Article

Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.

Clinica chimica acta; international journal of clinical chemistry - 30 Jan 2016

Zhang Yanghui, Li Haoxian, Ma Ruiyu, Mei Libin, Wei Xianda, Liang Desheng, Wu Lingqian

Abstract excerpt

Glutaric aciduria type I (GA-I) is a rare autosomal recessive metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase (GCDH), leading to an abnormal metabolism of lysine, hydroxylysine and tryptophan. It results in accumulations of glutaric acid, 3-hydroxyglutaric acid and glutaconic acid. Clinical features include the sudden onset of encephalopathy, hypotonia and macrocephaly usually before age...

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Source

Identifiers

PMID: 26656312
DOI: 10.1016/j.cca.2015.12.003

Genes

GCDH

Variants

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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