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Article

Molecular basis of 3-hydroxy-3-methylglutaric aciduria.

Journal of physiology and biochemistry - 1 Dec 2003

Pie J, Casals N, Puisac B, Hegardt F G

Abstract excerpt

3-Hydroxy-3-methylglutaric aciduria is a human autosomal recessive metabolic disorder that usually appears within the first year of life. The causes of this aciduria are lethal mutations in the gene encoding for 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL). HL is a mitochondrial matrix enzyme that catalyzes the last step of ketogenesis and leucine catabolism. This gene has been mapped to chromosome 1 at locus...

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Source

Identifiers

PMID: 15164951
DOI: 10.1007/BF03179889

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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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