3-hydroxy-3-methylglutaryl-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, 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.
MONDO:0017713
disorder of fatty acid oxidation and ketogenesis
is_a
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
exact
3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency
related
HMG CoA synthetase deficiency
related
HMG-CoA synthase deficiency
exact
HMG-CoA synthase-2 deficiency
exact
HMGCS2D
related
SPAC4F8.14c