Search
CPS1 deficiency
Pathology: hyperammonemia
Genetics:
- autosomal recessive
- associated with defects in CPS1
Clinical manifestations:
- vomiting in infancy
- protein intolerance
- intermittent ataxia
- seizures
- lethargy
- mental retardation
Laboratory:
- increased plasma NH3
General
amino acid inborn error of metabolism
Database Correlations
OMIM 237300
References
OMIM :accession 237300