Assays / Genetic Enzymes / Carbamoyl Phosphate Synthetase Deficiency

This is one of the most severe urea cycle disorders with onset usually in the first week with drowsiness, vomiting and hypotonia. Death usually occurs from age 2 to 15 months. A few patients survive longer than this but with mental retardation and neurological problems.

Enzyme Tests: Carbamoyl phosphate synthetase in liver is assayed to diagnose this disorder.

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