obsolete_3-hydroxy-3-methylglutaric aciduria true ICD10:E71.1 Replaced with Mondo term. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency orphanet http://purl.obolibrary.org/obo/MONDO_0009520 OMIM:246450 3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae. UMLS:C1533587 Hydroxymethylglutaric aciduria 3.41.0