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beta-ureidopropionase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 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).
Uniprot Description An inborn error of metabolism due to a defect in pyrimidine degradation. It is characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay. Patients show strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine.
Mondo Term and Equivalent IDs
MONDO:0013164:  beta-ureidopropionase deficiency
MESH:C563210: 
Orphanet:65287: 
SCTID:124511000: 
UMLS:C1291512: