has material basis in germline mutation in UPB1 beta-ureidopropionase deficiency https://www.malacards.org/card/beta_ureidopropionase_deficiency UPB1D ICD9:277.6 icd11.foundation:1227425060 SCTID:124511000 GARD:0016669 Beta-alanine synthase deficiency UMLS:C1291512 beta-ureidopropionase deficiency MONDO:0013164 Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal). Orphanet:65287 MEDGEN:226944 OMIM:613161 MESH:C563210 inborn disorder of pyrimidine metabolism