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What Is Ornithine Transcarboxylase Deficiency?

Ornithine transcarboxylase deficiency (OTC) is a disorder that causes ammonia to build up in the blood. This inherited disorder is apparent early in life, possibly causing seizures, lethargy, poorly-controlled breathing and abnormal body temperature, according to Genetics Home Reference.

  1. Genes

    • This deficiency is caused by mutations in the OTC gene, according to Genetics Home Reference. The mutations cause aberrations in the urea cycle, which processes excess nitrogen into the liver.

    Heredity

    • This disorder is linked to the X chromosome. Men cannot pass the deficiency to their sons, according to Genetics Home Reference.

    Diagnosis

    • Blood tests will be taken to check ammonia levels in the blood if ornithine transcarboxylase deficiency is suspected. Liver biopsy can confirm diagnosis, according to Madison's Foundation.

    Treatment

    • OTC must be treated over the course of the patient's life, according to Madison's Foundation. Frequent monitoring by doctors, a high protein diet, and medication to help the body adjust to high ammonia levels may be employed.

    Prognosis

    • OTC patients can live with almost no symptoms if the condition is treated properly, according to Madison's Foundation. Avoidance of treatment could cause brain damage or death.

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