Short answer · Medically reviewed summary · Last updated: 2023-07-13
Ornithine Transcarbamylase Deficiency (OTC deficiency) is a rare genetic disorder that affects the urea cycle, a process in the liver that helps remove ammonia from the body. Ammonia is a toxic substance that is produced when proteins are broken down.
What is Ornithine Transcarbamylase Deficiency
What is Ornithine Transcarbamylase Deficiency? Plain-language, medically reviewed definition plus the lived reality told by patients.
Ornithine Transcarbamylase Deficiency (OTC deficiency) is a rare genetic disorder that affects the urea cycle, a process in the liver that helps remove ammonia from the body. Ammonia is a toxic substance that is produced when proteins are broken down. In individuals with OTC deficiency, the enzyme ornithine transcarbamylase, which is responsible for a specific step in the urea cycle, is either missing or not functioning properly.
This deficiency leads to a buildup of ammonia in the blood, which can be toxic to the brain and other organs. Symptoms of OTC deficiency can vary widely, ranging from mild to severe, and may include poor appetite, vomiting, lethargy, confusion, and even coma. If left untreated, OTC deficiency can be life-threatening.
OTC deficiency is typically diagnosed through blood tests that measure ammonia levels and genetic testing to identify mutations in the OTC gene. Treatment involves managing ammonia levels through a low-protein diet, medications, and sometimes dialysis. Liver transplantation may be considered in severe cases.
Early diagnosis and intervention are crucial in managing OTC deficiency and preventing complications. Genetic counseling is recommended for families with a history of the condition.
