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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
General
amino acid inborn error of metabolism
Database Correlations
OMIM 606673
MORBIDMAP 606673
References
OMIM :accession 606673