carbamoyl phosphate synthetase I deficiency disease

A urea cycle disorder that involves accumulation of ammonia in the blood.

Signs and symptoms

• Lethargy
• Hyperammonemia
• Vomiting
• Hypoargininemia
• Seizure
• Low plasma citrulline
• Global developmental delay
• Ataxia
• Cerebral edema
• Failure to thrive

Also known as: CPS I deficiency