Carbamoyl Phosphate Synthetase Deficiency (CPS)

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Carbamoyl phosphate synthetase deficiency (CPS) is an inherited condition in which the body is unable to process and remove waste, causing dangerous amounts of ammonia to build up in the blood. If left untreated, the condition can result in developmental delays, intellectual disabilities, or even death. Early detection and proper treatment for this condition are essential.  There are two main forms of carbamoyl phosphate synthetase deficiency, each differing in its age of onset. In the first and most common form of CPS, signs usually begin shortly after birth. Early signs of CPS in babies include poor appetite, tiredness, vomiting, trouble regulating body temperature, difficulty breathing, seizures, uncontrolled body movements, and delayed growth. Many of these signs may occur when a baby eats foods that the body cannot break down.