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Article

[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Jan 2010

Pierron S, Giudicelli H, Moreigne M, Khalfi A, Touati G, Caruba C, Rolland M-O, Acquaviva C

Abstract excerpt

3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder due to a deficiency of the 3-hydroxy-3-methylglutarylCoA lyase (HMG-CoA lyase), a mitochondrial enzyme involved in ketogenesis and in the final step of l-leucine catabolism. HMG-CoA lyase deficiency can lead, in pa...

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Source

Identifiers

PMID: 19932602
DOI: 10.1016/j.arcped.2009.09.022

Genes

HMGCL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19932602-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder].PMID 19932602Read ↗

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.Semantic proximity Read ↗

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many facesSemantic proximity Read ↗

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.Semantic proximity Read ↗

Molecular genetics of HMG-CoA lyase deficiency.Semantic proximity Read ↗

The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.Semantic proximity Read ↗

Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.Semantic proximity Read ↗

[3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome].Semantic proximity Read ↗

3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency in an adolescent male: a case report and narrative review of Chinese patients.Semantic proximity Read ↗

Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review.Semantic proximity Read ↗

3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.Semantic proximity Read ↗

Perioperative Anesthetic Considerations in 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency: Case Report and Literature ReviewSemantic proximity Read ↗

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