Tag: amino acid metabolism

  • ARG Deficiency

    ARG Deficiency Definition and Description of ARG Deficiency ARG Deficiency, or argininosuccinic aciduria, is a genetic metabolic disorder characterized by the body’s inability to properly metabolize the amino acid arginine. This deficiency is typically caused by mutations in the ASL gene, which is responsible for encoding the enzyme argininosuccinate lyase. The lack of this enzyme…

  • Argininemia

    Argininemia Definition and Description of Argininemia Argininemia is a rare autosomal recessive disorder primarily affecting the metabolism of the amino acid arginine. It is classified as a urea cycle disorder, wherein the body is unable to adequately process nitrogen, leading to an accumulation of toxic substances. This condition is caused by a deficiency of the…