En rubbning i ureacykeln som visar sig i barndomen som slöhet, kräkningar, krampanfall, muskelspänningar, onormala ögonrörelser och förhöjda halter av serumammoniak. Sjukdomen beror på nedsatt verkan av karbamoylfosfatsyntas (ammoniak) i levermitokondrierna.
A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
Inga svenska synonymer finns.
Carbamyl-Phosphate Synthetase I Deficiency Disease — Carbamyl Phosphate Synthetase I Deficiency Disease — Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease — Carbamoyl-Phosphate Synthetase I Deficiency Disease — Carbamoyl Phosphate Synthetase I Deficiency Disease — Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) — Carbamyl Phosphate Synthetase Deficiency Disease — Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) — Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) — Carbamoylphosphate Synthetase 1 Deficiency Disease - — Carbamoylphosphate Synthetase 1 Deficiency Disease — Carbamyl-Phosphate Synthetase 1 Deficiency Disease — Carbamyl Phosphate Synthetase 1 Deficiency Disease — Carbamoyl-Phosphate Synthase 1 Deficiency Disease — Carbamoyl Phosphate Synthase 1 Deficiency Disease — Carbamoylphosphate Synthetase I Deficiency Disease — Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency — Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To — Carbamoyl Phosphate Synthase 1 Deficiency — CPS I Deficiency — CPS I Deficiencies — Carbamyl Phosphate Synthetase (CPS) Deficiency — CPS 1 Deficiency — CPS 1 Deficiencies — Carbamoyl Phosphate Synthetase I Deficiency