beta-ureidopropionase deficiency

beta-ureidopropionase deficiency

A rare autosomal recessive condition (OMIM:613161) characterised by muscular hypotonia, dystonic movement, scoliosis, microcephaly and severe developmental delay.

Lab
Markedly elevated N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, CSF and urine.

Molecular pathology
Defects of UPB1, which encodes beta-ureidopropionase, a catalyst for the last step in the pyrimidine degradation pathway, cause beta-ureidopropionase deficiency.