HMG-CoA synthase 2 deficiency (DOID:0081168)
Alliance: disease page
Synonyms: 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency
Alt IDs: OMIM:605911, ORDO:35701
Definition: An amino acid metabolic disorder that is 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 and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12.