ornithine carbamoyltransferase deficiency

An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.

Signs and symptoms

• Hyperammonemia
• Oroticaciduria
• Elevated circulating uracil concentration
• Elevated circulating aspartate aminotransferase concentration
• Elevated circulating alanine aminotransferase concentration
• Vomiting
• Reduced hepatic ornithine transcarbamylase activity
• Ataxia
• Cerebral edema
• Failure to thrive

Also known as: deficiency of citrulline phosphorylase; ornithine transcarbamylase deficiency