carbamoyl phosphate synthetase 1 deficiency

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carbamoyl phosphate synthetase 1 deficiency2016-11-25T03:25:05+00:00

carbamoyl phosphate synthetase 1 deficiency 

MOLECULAR MEDICINE

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 1 deficiency. 

Synonym Carbamoyl phosphate synthetase 1 deficiency—hyperammonaemia due to

References http://www.uniprot.org/uniprot/P31327

http://www.omim.org/entry/237300

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