Ornithine transcarbamylase deficiency

Ornithine carbamoyltransferase deficiency


Type of disease: Rare conditions

Ornithine transcarbamylase (OTC) deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Mutations in the OTC gene cause OTC deficiency. OTC deficiency is an X-linked disorder. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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