Tag: urea cycle disorder

  • Hyperammonemia due to Ornithine Transcarbamylase Deficiency

    Hyperammonemia due to Ornithine Transcarbamylase Deficiency Definition and Description of Hyperammonemia due to Ornithine Transcarbamylase Deficiency Hyperammonemia is a condition characterized by elevated levels of ammonia in the blood, which can lead to serious neurological issues if left untreated. One specific cause of hyperammonemia is Ornithine Transcarbamylase (OTC) deficiency. OTC is an enzyme that plays…

  • 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…