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Article

Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency.

Journal of inherited metabolic disease - 1 Feb 2006

Aledo R, Mir C, Dalton R N, Turner C, Pié J, Hegardt F G, Casals N, Champion M P

Abstract excerpt

Mitochondrial HMG-CoA synthase deficiency is an inherited metabolic disorder caused by a defect in the enzyme that regulates the formation of ketone bodies. Patients present with hypoketotic hypoglycaemia, encephalopathy and hepatomegaly, usually precipitated by an intercurrent infection or prolo...

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PMID: 16601895
DOI: 10.1007/s10545-006-0214-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16601895-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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