Tag: metabolic disorder

  • SPD Calcinosis

    SPD Calcinosis: Definition and Description of SPD Calcinosis: SPD calcinosis, also known as basal metabolic calcinosis, is a rare metabolic disorder characterized by the abnormal deposition of calcium salts in various tissues, especially in the skin, muscles, and connective tissues. This condition arises from disruptions in calcium and phosphate metabolism, leading to excessive calcification. While…

  • Homocystinuria

    Homocystinuria Definition and Description of Homocystinuria Homocystinuria is a rare genetic disorder that results in an abnormal buildup of homocysteine in the blood. It is classified as an inherited metabolic disorder where the body is unable to properly process certain amino acids, particularly methionine, leading to elevated levels of homocysteine. This condition can result in…

  • GALT Deficiency

    GALT Deficiency Definition and Description of GALT Deficiency GALT Deficiency, or Galactose-1-Phosphate Uridyltransferase Deficiency, is a rare genetic disorder that affects the body’s ability to metabolize galactose, a sugar found in milk and dairy products. This condition results from mutations in the GALT gene, which provides instructions for producing the GALT enzyme. Without adequate levels…

  • 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…