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Metadata
ID	DOID:0081168
Name	HMG-CoA synthase 2 deficiency
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. https://pubmed.ncbi.nlm.nih.gov/16601895/, https://www.ncbi.nlm.nih.gov/articles/PMC5979369/
Xrefs	GARD:2712 MIM:605911 ORDO:35701
Subsets	DO_rare_slim
Synonyms	3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency [EXACT]
Parent Relationships	is_a amino acid metabolic disorder is_a autosomal recessive disease