Urea cycle disorders (UCD) are rare inherited metabolic disorders with an incidence estimated to be 1:35,000 births.1 UCDs are caused by the dysfunction of any of the six enzymes (namely, carbamoyl phosphate synthetase I, N-acetylglutamate synthetase, ornithine transcarbamylase, argininosuccinic acid synthetase, argininosuccinate lyase, and arginase) or the two transport proteins (ornithine translocase and aspartate/glutamate carrier) involved in urea biosynthesis.2,3 The urea cycle converts the highly toxic ammonia produced from amino acid catabolism into urea, for excretion via the kidneys. A defect in urea synthesis results in hyperammonemia.2
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Competency standards (2016) addressed: 1.3, 1.4, 1.5, 3.4, 3.5
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UCDs are usually diagnosed in early childhood, however partial enzyme deficiencies can remain silent, until rare episodes of protein overload or increased catabolism can result in hyperammonemia.1 Hyperammonemia risk is also increased in cases of prolonged fasting, surgery, trauma, pregnancy, or episodes of increased catabolism in infections such as gastroenteritis.1 UCDs account for ap
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