3-hydroxy-3-methylglutaryl-CoA synthase deficiency

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Synonyms: HMG-CoA synthase deficiency

3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term) reported in less than 20 patients to date characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting lethargy hepatomegaly non ketotic hypoglycemia and in rare cases coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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