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

More general terms

• hyperammonemia
• enzyme deficiency
• inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/311250