Beta-Ureidopropionase Deficiency

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

UPB1, LINC01672

Drugs

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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).