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Article

Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.

Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2009

Lin Wei-De, Wang Chung-Hsing, Lai Chien-Chen, Tsai Yushin, Wu Jer-Yuarn, Chen Chih-Ping, Tsai Fuu-Jen

Abstract excerpt

BACKGROUND: 3-Hydroxy-3-methylglutaryl CoA lyase deficiency (HL deficiency) is a rare autosomal recessive mitochondrial disease characterized by a deficiency in the enzyme 3-Hydroxy-3-methylglutaryl CoA lyase (HMGCL). Here, we report on novel mutations identified in the HMGCL gene in 2 Taiwanese patients with HL deficiency. METHODS: Analysis of organic acids in urine was performed using gas chromatography-mass...

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Source

Identifiers

PMID: 19036343
DOI: 10.1016/j.cca.2008.11.004

Genes

HMGCL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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