UCD.- Carbamoyl-Phosphate Synthetase (CPS) deficiency. Two forms.
Incidence
Very rare. AR inheritance. Never seen in Saudi Arabia. One case of N-acetylglutamate synthetase (activator of CPS) deficiency reported, which produced the same clinical picture of CPS deficiency.
Clinical Characteristics
Is the most severe of the UCD.The neonatal form (100% enz. def) is usually fatal, with hyperammonemic coma. In partial deficiency, Sx. start in infancy with recurrent vomiting, lethargy, convulsions, hypo or hypertonia & irregular eye movements.. During crisis there is respiratory alcalosis.
Precipitants
Protein intake. Minor stresses may provoke severe exacerbations.
Provocation Tests
no
Diagnostic Procedures
EB liver & duodenum.