beta-ureidopropionase deficiency

Genetics

• associated with defects in UPB1

Clinical manifestations

• muscular hypotonia
• dystonic movements
• scoliosis
• microcephaly
• severe developmental delay

Laboratory

• elevated levels of N-carbamyl-beta-alanine & N-carbamyl-beta-aminoisobutyric acid in plasma, CSF & urine

More general terms

• amino acid inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/606673