Ornithine transcarbamylase deficiency
Ornithine transcarbamylase deficiency (OTC), the most common of the Urea Cycle Disorders, is a rare metabolic disorder, occurring in one out of every 40000 births.[1] OTC is a mutation on the X chromosome causing primarily females to be carriers while males rarely survive past 72 hours of birth. Half of those survivors die in the first month, and half of the remaining by age 5.
Effects Like other urea cycle disorders, OTC affects the body's ability to get rid of ammonia, a toxic breakdown product of the body's use of protein. As a result, ammonia accumulates in the blood and travels to the various organs of the body including the brain, causing coma, brain damage and death.
Treatment Treatment includes a low-protein formula called keto-acid and sodium benzoate, a preservative, and another type of sodium, which binds to ammonia and helps eliminate it from the body.
External linksEmedicine article
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