Medical Definition of Carbamoylphosphate synthetase deficiency

1. Carbamoylphosphate synthetase is the initial enzyme of the urea cycle, catalysing the synthesis of carbamoylphosphate from ammonia, bicarbonate and ATP as the first step of ammonia detoxification. The enzyme is an intramitochondrial form called CPS I. A different isozyme found in the cytoplasm, called CPS II, is much less active and apparently not involved in the urea cycle. The deficiency state is autosomal recessive and presents in infancy with massive hyperammonaemia and neurologic deficits in survivors. Diagnosis is suggested by the blood biochemistry and confirmed by specific enzyme assay on liver or rectal biopsy. Prenatal diagnosis by molecular methods has been used successfully in informative families. Inheritance: autosomal recessive. (07 Apr 1998)

Lexicographical Neighbors of Carbamoylphosphate Synthetase Deficiency

carbamic acid
carbamide
carbamide
carbamides
carbamino
carbaminohemoglobin
carbamino compound
carbamoate
carbamoyl
carbamoyl
carbamoyl-phosphate synthase (ammonia)
carbamoyl-phosphate synthase (glutamine-hydrolyzing)
carbamoylaspartate dehydrase
carbamoylation
carbamoylcarbamic acid
carbamoylphosphate synthetase deficiency (current term)
carbamoyls
carbamoyltransferase
carbamoylurea
carbamoyl phosphate
carbamoyl phosphate synthetase
carbamyl
carbamyl
carbamylation
carbamylcholine chloride
carbamyls
carbamyl phosphate
carbanion
carbanion
carbanions

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