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Definition

An autosomal recessive disorder of the urea cycle causing hyperammonemia. It can present as a devastating metabolic disease dominated by severe hyperammonemia in neonates or as a more insidious late-onset condition, generally manifesting as life-threatening hyperammonemic crises under catabolic situations. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and mental retardation.

Acronym

CPS1D

Synonyms

Carbamoyl phosphate synthetase I deficiency
CPS I deficiency
Hyperammonemia due to carbamoyl phosphate synthetase I deficiency

 
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