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What is ornithine transcarbamylase (OTC) deficiency?

OTC deficiency is caused by mutations in the gene encoding the ornithine transcarbamylase (OTC) enzyme. This enzyme is responsible for detoxification of the ammonia that forms when proteins are broken down in the body. When there is not enough OT, ammonia builds up in the bloodstream. This can become toxic at high levels, potentially causing neurological impairments and eventual liver damage.

The most common form of OTC deficiency, occurring in both males and females, is a late-onset form. Although late-onset OTC deficiency is considered milder than neonatal-onset OTC deficiency, which affects newborns, it is still considered a serious condition. Currently, the only curative treatment is liver transplantation.

Diagnosis & Treatments

Gene therapy for OTC deficiency

Boston Children’s recently participated in a gene therapy trial for patients with late-onset OTC. The therapy used an adenovirus vector to deliver a healthy copy of the OTC gene through an IV infusion. For more information, contact gene.therapy@childrens.harvard.edu.

Programs & Services

Programs

Gene Therapy Program

Program

Our Gene Therapy Program is one of the largest and most experienced pediatric gene therapy programs in the world.

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