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