3-hydroxy-3-methylglutaric aciduria https://www.malacards.org/card/3_hydroxy_3_methylglutaryl_coa_lyase_deficiency OMIM:246450 HMG CoA lyase deficiency HMGCLD SCTID:410059004 NCIT:C84523 Orphanet:20 NANDO:2201119 hydroxymethylglutaryl-CoA lyase deficiency defect in leucine metabolism 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. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency MEDGEN:735832 3-OH 3-Methyl glutaric aciduria deficiency of hydroxymethylglutaryl-CoA lyase Hydroxymethylglutaric aciduria 3-hydroxy-3-methylglutaric aciduria HMG-CoA lyase deficiency NANDO:2200497 MONDO:0009520 DOID:0070541 GARD:0008387 UMLS:C1533587 icd11.foundation:795785192 MESH:C538324 disorder of fatty acid oxidation and ketogenesis classic organic aciduria obsolete_3-hydroxy-3-methylglutaric aciduria