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Disorder of the urea cycle metabolism

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Description

A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.

NCI

  • Mode of Inheritance

    VARIANTS

    0

    Genes

    External Links

    • OMIM
    • Orphanet

      79167

    • HPO
    • Medgen

      C0154246

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