Ornithine transcarbamylase deficiency

Definition

Ornithine transcarbamylase deficiency is a disorder in which there is a failure of the body to properly process ammonia, which can lead to coma and death if left untreated.

Description

Persons with ornithine transcarbamylase deficiency (OTC deficiency) have a problem with nitrogen metabolism. Too much nitrogen in the blood in the form of ammonia can cause brain damage, coma, and death. Ammonia is made up of nitrogen and hydrogen. Ammonia found in humans mostly comes from the breakdown of protein, either protein broken down from muscles, organs, and tissues already in the body, or excess protein that is eaten in the diet. Since excess ammonia is harmful, it is immediately excreted in normal humans after passing through the urea cycle and becoming urea. Ornithine transcarbamylase...

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