Ornithine transcarbamylase deficiency
February 3, 2023
Ornithine transcarbamylase deficiency (OTC) is a rare, inherited metabolic disorder that affects the body's ability to process certain amino acids, which are the building blocks of proteins. OTC deficiency is caused by mutations in the OTC gene, which provides instructions for making an enzyme called ornithine transcarbamylase. This enzyme is involved in the production of another molecule called urea, which is a byproduct of protein metabolism.
In people with OTC deficiency, the body cannot properly break down certain amino acids, leading to a buildup of toxic substances in the blood and urine. This can cause symptoms such as vomiting, diarrhea, lethargy, and confusion, especially after consuming a protein-rich meal. In severe cases, OTC deficiency can cause life-threatening liver damage, brain damage, and coma.
The diagnosis of OTC deficiency is usually made through a combination of genetic testing, medical history, and physical exam, as well as through laboratory tests that measure the levels of certain substances in the blood and urine. Management of OTC deficiency may include a low-protein diet, medications to reduce the levels of toxic substances in the blood and urine, and supplements to provide essential amino acids. Early diagnosis and management are important to prevent or minimize the effects of the condition and to reduce the risk of long-term complications, such as heart disease, stroke, and damage to the eyes, nerves, and kidneys.
NutraHacker examines the following gene related to Ornithine transcarbamylase deficiency:
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