carbamoyl phosphate synthetase 1 deficiency
carbamoyl phosphate synthetase 1 deficiencyAn 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.
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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