beta-ureidopropionase deficiencyA rare autosomal recessive condition (OMIM:613161) characterised by muscular hypotonia, dystonic movement, scoliosis, microcephaly and severe developmental delay.
Markedly elevated N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, CSF and urine.
Defects of UPB1, which encodes beta-ureidopropionase, a catalyst for the last step in the pyrimidine degradation pathway, cause beta-ureidopropionase deficiency.
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