Description

Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Ornithine transcarbamylase deficiency often becomes evident in the first few days of life. This severe, early-onset form of the disorder usually affects males; it is very rare in females. An infant with ornithine transcarbamylase deficiency may be lacking in energy (lethargic) or unwilling to eat, and have a poorly-controlled breathing rate or body temperature. Some babies with this disorder may experience unusual body movements, seizures, or coma. Complications from ornithine transcarbamylase deficiency may include developmental delay and intellectual disability. Progressive liver damage, skin lesions, and brittle hair may also occur.

Genes:

OTC

Disorders:

Metabolic Disorders

Clinical Utility:

Confirmation of a clinical diagnosis, Carrier testing in unaffected family members

Methods