Hereditary urea cycle abnormality

Alternative names:

abnormality of the urea cycle - hereditary; urea cycle - hereditary abnormality

Definition:

The urea cycle is a metabolic cycle involving the deamination of protein (removal of nitrogen from amino acids) and the incorporation of excess nitrogen into a form (urea) that can be removed from the body through the urinary tract. Several hereditary conditions exist that involve abnormalities of the urea cycle (occurs in 1 in 30,000 newborns). A few of these inheritable disorders are:

• ornithine transcarbamylase deficiency (OTC)
• methylmalonic acidemia
• propionic acidemia
• arginase deficiency
• argininosuccinic aciduria
• carbamyl phosphate synthetase (CPS) deficiency
• N-acetyl glutamate synthetase deficiency (NAGS).
• multiple carboxilayse deficiency
• isovaleric acedemia

Updated Date: 02/09/00

Updated By:J. Gordon Lambert, MD, Associate Medical Director, Utah Health Informatics and adam.com editorial