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3-hydroxy-3-methylglutaryl-CoA synthase deficiency

MONDO:0011614

3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, 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.

Also known as: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, HMG-CoA synthase deficiency, HMG-CoA synthase-2 deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency, HMG CoA synthetase deficiency, HMGCS2D, Hmgcs2 deficiency, mitochondrial HMG-Coa synthase deficiency

34 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inherited lipid metabolism disorder (165) Inborn errors of metabolism (42) Human disease (14) Inherited fatty acid metabolism disorder (6) Disorder of fatty acid and ketone body metabolism (3) Disease of genetic or genomic mechanism (2) Disorder of fatty acid oxidation and ketogenesis (1)
Trials to join now! 15 Not yet recruiting 4 Not yet finished but already full! 3 Completed 12
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