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ornithine hyperammonemia; ornithine carbamoyltransferase deficiency
Epidemiology:
- almost entirely males
Pathology:
- most severe mutants have no residual OTCase enzymatic activity in the liver
Genetics:
- X-linked
- due to ornithine carbamoyltransferase deficiency
Clinical manifestations:
- neonatal form: clinical hyperammonemia in the 1st few days of life
- late onset form: clinical presentation after the neonatal period
- generally present in the 1st few days of life overwhelming hyperammoniemia
- 15 to 20% of carrier females become symptomatic, characterized by vomiting, lethargy, seizures & occasionally death
General
hyperammonemia
enzyme deficiency
inborn error of metabolism
Database Correlations
OMIM 311250
References
OMIM :accession 311250