Hereditary Urea Cycle Abnormality
Alternate Names : Abnormality of the Urea Cycle - Hereditary, Urea Cycle - Hereditary Abnormality
Definition
The urea cycle is a metabolic cycle involving incorporation of waste nitrogen from the breakdown of dietary proteins into a form (urea) that can be removed from the body.
The liver makes urea from nitrogen waste, which is then excreted in the urine. Several hereditary conditions can cause this problem. These are genetic diseases caused by a the lack of a gene to make critical enzymes needed for the urea cycle. They include:
- ornithine transcarbamylase deficiency (OTC)
- citrullinemia
- arginase deficiency
- argininosuccinic aciduria
- carbamyl phosphate synthetase (CPS) deficiency
- N-acetyl glutamate synthetase deficiency (NAGS)
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