Ornithine Transcarbamylase De... Health Article

The future

The future treatment of OTC deficiency probably will come from experiments in gene therapy. OTC deficiency is a disorder particularly amenable to gene therapy because only one gene is affected and only one organ, the liver, would need the new gene. However, many technical problems must still be solved in order to successfully treat OTC deficiency and other disorders like it with gene therapy.

Prognosis

Only 50% of the most severely affected patients live beyond the time they first attend school. Of those receiving liver transplants, 82% of patients survive five years after receiving the transplant. Children with the severe disorder that receive drug therapy are much more likely to experience mental retardation, developmental delay, and a lack of growth. Also, many infants who experience hyperammonemic comas have severe mental damage.

For individuals not identified at birth or soon after, the prognosis varies widely. The consequences of the disorder are affected by the severity of the disorder and how it is managed, although anyone with the disorder may experience life-threatening attacks of acute hyperammonemia. In terms of long-term survival, puberty appears to be a difficult time for those with OTC deficiency, and persons who survive until after puberty have improved outcomes. The prognosis for this disorder can vary from quite hopeful to very distressing based upon its severity and how well the disorder can be controlled. A severe disorder that is well-controlled may still have a positive outcome.

PERIODICALS

Maestri, Nancy E., et al. "The Phenotype of Ostensibly Healthy Women Who Are Carriers for Ornithine Transcarbamylase Deficiency." Medicine 77, no. 6 (November 1998): 389.

ORGANIZATIONS

National Urea Cycle Disorders Foundation. 4841 Hill Street, La Canada, CA 91011. (800) 38NUCDF. <http://www.NUCDF.org/>.

WEBSITES

"Ornithine transcarbamylase deficiency." NORD—National Organization for Rare Diseases. <http://www.rarediseases.org>.

"Ornithine transcarbamylase deficiency." Aim for Health. <http://www.aim4health.com/family/otc.htm>.

Michael V. Zuck, Ph D