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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 prolonged fasting. The diagnosis may easily be missed as previously reported results of routine metabolic investigations,...

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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