Background Urea cycle defects (UCD) constitute a group of rare metabolic disorders that involve the enzymes of every step of urea cycle. Deficiency of one of these enzymes leads to hyperammonemia and they present classically with acute life-threatening neonatal encephalopathy. However, presentation at later childhood or adulthood could also occur. There are many disorders that mimic UCD causing misdiagnosis or wrong diagnosis.
Methods A prospective and retrospective study was made on 10 cases of UCD. Most have been diagnosed at the neonatal period with follow up done through our genetic and metabolic clinic at Naser Pediatric Hospital.
Results Most of the cases presented with acute ammonia encephalopathy. Age of presentation was variable. Most of the cases were from the Northern Gaza which is of geographical similarity to distribution of the IEM collectively .There was no gender differences. Consanguinity and family history were positive in almost all of the cases. For means of diagnosis, referral was done for aminoacid profile. outcome of the cases varied from early neonatal death to normalcy through later childhood.
Conclusion and recommendations The high consanguinity rate in our country makes IEM not uncommon problem. Estimation the overall incidence of IEM in general and UCD in particular is needed. Further studies are needed to explain the higher incidence in Northern Gaza. Lack of metabolic specialist and metabolic laboratory necessitates referral of cases which has many problematic issues. We need to have metabolic specialist and genetist as well as our own metabolic and genetic lab in Gaza strip.