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Urea Cycle Disorders

Official Community

A urea cycle disorder is a genetic disorder caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream.

The six urea cycle disorders are:

  • Arginase Deficiency (AG)
  • Argininosuccinic Aciduria (ASA)
  • Carbamyl Phosphate Synthetase Deficiency (CPS)
  • Citrullinaemia
  • N-Acetylglutamate Synthetase Deficiency (NAGS)
  • Ornithine Transcarbamylase Deficiency (OTC)