Ornithine Transcarbamylase Deficiency Disease, also known as OTC deficiency, is a rare genetic disorder that affects the body's ability to break down and eliminate waste products from protein metabolism. This condition is caused by a mutation in the OTC gene, which is responsible for producing the enzyme ornithine transcarbamylase.
Ornithine transcarbamylase is necessary for the breakdown of ammonia, a toxic byproduct of protein metabolism, into a less harmful substance called urea. Urea is then excreted from the body through urine. However, in individuals with OTC deficiency, the lack or dysfunction of this enzyme leads to the buildup of ammonia in the bloodstream.
As ammonia accumulates in the body, it can cause a wide range of symptoms, including lethargy, poor appetite, vomiting, seizures, behavior changes, and even coma. These symptoms typically occur during infancy or early childhood when protein-rich foods are introduced into the diet. In more severe cases, OTC deficiency may also lead to liver damage, cognitive impairment, and developmental delays.
This condition is inherited in an X-linked recessive pattern, meaning it primarily affects males. Females who carry one copy of the OTC gene mutation are usually unaffected or experience milder symptoms. Treatment for OTC deficiency often involves a low-protein diet, medications to reduce ammonia levels, and sometimes liver transplantation in more severe cases.
Overall, Ornithine Transcarbamylase Deficiency Disease is a genetic disorder that impairs the body's ability to process ammonia, leading to a wide range of symptoms that can vary in severity.
