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Article

Molecular genetics of HMG-CoA lyase deficiency.

Molecular genetics and metabolism - 1 Nov 2007

Pié Juan, López-Viñas Eduardo, Puisac Beatriz, Menao Sebastián, Pié Angeles, Casale Cesar, Ramos Feliciano J, Hegardt Fausto G, Gómez-Puertas Paulino, Casals Núria

Abstract excerpt

3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder that affects ketogenesis and l-leucine catabolism, which generally appears during the first year of life. Patients with HL deficiency have a reduced capacity to synthesize ketone bodies. The disease is caused by lethal mutations in the HL gene (HMGCL). To date, up to 30 variant alleles (28 mutations and 2 SNPs) in...

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Source

Identifiers

PMID: 17692550
DOI: 10.1016/j.ymgme.2007.06.020

Genes

HMGCL

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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