disease has feature Seizure Hypertonia Severe intellectual disability inborn organic aciduria maple syrup urine disease https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/maple_syrup_urine_disease_type_ia MEDGEN:6217 BCKD deficiency MSUD MESH:D008375 icd11.foundation:1623706568 OMIMPS:248600 DOID:9269 An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. Ketoacidaemia ICD10CM:E71.0 SCTID:27718001 branched chain ketoaciduria NANDO:1200791 NORD:1400 Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct NANDO:2200473 maple syrup urine disease, type 1A MONDO:0009563 maple syrup urine disease, type 2 maple syrup urine disease, type 1B MedDRA:10026817 GARD:0003228 BCKDH deficiency NCIT:C34806 branched-chain ketoaciduria Orphanet:511 branched-chain 2-ketoacid dehydrogenase deficiency maple syrup urine disease UMLS:C0024776 inborn disorder of branched-chain amino acid metabolism