has material basis in germline mutation in HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/3_hydroxy_3_methylglutaryl_coa_synthase_2_deficiency_2 https://www.malacards.org/card/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. MESH:C567784 Orphanet:35701 UMLS:C2751532 HMG-CoA synthase deficiency GARD:0002712 DOID:0081168 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency MEDGEN:414399 MONDO:0011614 HMG-CoA synthase-2 deficiency SCTID:725286002 HMGCS2D NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency OMIM:605911 HMG CoA synthetase deficiency disorder of fatty acid oxidation and ketogenesis