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Article

New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.

European journal of medical genetics - 1 Aug 2013

Ramos Mónica, Menao Sebastián, Arnedo María, Puisac Beatriz, Gil-Rodríguez María Concepción, Teresa-Rodrigo María Esperanza, Hernández-Marcos María, Pierre Germaine, Ramaswami Uma, Baquero-Montoya Carolina, Bueno Gloria, Casale Cesar, Hegardt Fausto G, Gómez-Puertas Paulino, Pié Juan

Abstract excerpt

Mitochondrial HMG-CoA synthase deficiency is a rare inherited metabolic disorder that affects ketone-body synthesis. Acute episodes include vomiting, lethargy, hepatomegaly, hypoglycaemia, dicarboxylic aciduria, and in severe cases, coma. This deficiency may have been under-diagnosed owing to the absence of specific clinical and biochemical markers, limitations in liver biopsy and the lack of an effective method...

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Source

Identifiers

PMID: 23751782
DOI: 10.1016/j.ejmg.2013.05.008

Genes

HMGCS2

Variants

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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