We received an official diagnosis today from his liver biopsy. The specific Urea Cycle Disorder is called Carbamoyl Phosphate Synthetase Deficiency (CPS).
“Carbamoyl phosphate synthetase (CPS) deficiency is a urea cycle defect that results from a deficiency in an enzyme that mediates the normal path for incorporation of ammonia” (Roth, 2007).
emedicine website Roth, K. (2007) retrieved from http://emedicine.medscape.com/article/942159-overview
CPS deficiency is rare. As with all the urea cycle defects, as well as most of the inborn errors, citing incidence figures is impossible because new cases are generally diagnosed randomly without the benefit of population screening.
Mortality and morbidity rates are high. Untreated CPS deficiency is likely fatal.
The multiple primary causes of hyperammonemia, specifically those due to urea cycle enzyme deficiencies, vary in manifestation, diagnostic features, and management. For these reasons, the urea cycle defects are considered individually in this article; however, hyperammonemia is the common denominator and generally manifests clinically as a common constellation of signs and symptoms. As a consequence, the most striking clinical findings of each individual urea cycle disorder relate to this constellation of symptoms and rough temporal sequence of events.
Symptoms include the following:
Anorexia, Irritability, Heavy or rapid breathing, Lethargy, Vomiting, Disorientation, Somnolence,
Asterixis (rare), Combativeness, Obtundation, Coma, Cerebral edema, death
National Urea Cycle Foundation http://www.nucdf.org/index.htm