The purpose of this study is to monitor safety and measure changes in urea production resulting from gene therapy in patients with ornithine transcarbamylase (OTC) deficiency. OTC deficiency is an inborn error of urea synthesis inherited as an X-linked disorder. Classically affected males present with hyperammonemic coma in the newborn period, while heterozygous females have a spectrum of clinical presentations ranging from asympotmatic to severe symptoms. Current treatment relies on the administration of chemicals which provide substrates for alternate pathways of ammonia elimination (which do not depend on the urea cycle) or liver transplantation, and the outcome remains bleak. A Phase I study of adenoviral mediated gene therapy is being carried out at the University of Pennsylvania on adult heterozygotes with this disorder. We are a collaborating institution in this study and wish to 1) measure the efficacy of the experimental treatment in correcting deficits in urea synthesis by measuring urea and amino acid levels in blood samples obtained after the administration of the stable (i.e., non-radioactive) isotope 15N-ammonium chloride, and by obtaining urine samples for measurement of orotic acid levels, after administration of a single dose of allopurinol; and 2) to obtain blood for liver, renal, hematologic, and immune function to study the safety of gene therapy in subjects with OTC deficiency.
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