carbamoyl phosphate synthetase 1 deficiency

carbamoyl phosphate synthetase 1 deficiency

An autosomal recessive disorder (OMIM:237300) of the urea cycle, which is chemically characterised by hyperammonaemia and clinically characterised by protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and mental retardation.

Molecular pathology
Defects of CPS1, which encodes a mitochondrial enzyme that synthesises carbamoyl phosphate from ammonia and bicarbonate (removing excess ammonia from cells), cause carbamoyl phosphate synthetase deficiency.

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