Beta-ureidopropionase Deficiency
Autosomal recessive
Genes analysed
Also known as
Beta-alanine synthase deficiency; UPB1D
Condition report · Metabolic
Beta-Ureidopropionase Deficiency
Beta-ureidopropionase deficiency is a rare hereditary metabolic disorder. The condition causes an excess of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to be released in the urine.
A condition report looks for rare variants known to cause the conditions it covers.
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