Tag: newborn screening

  • Phenylketonuria (PKU)

    Phenylketonuria (PKU): Definition and Description of Phenylketonuria (PKU): Phenylketonuria (PKU) is a rare genetic disorder that affects the metabolism of phenylalanine, an amino acid found in many protein-containing foods. PKU is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH), which is essential for converting phenylalanine into tyrosine, another amino acid. In individuals with…

  • Infantile Spinal Muscular Atrophy

    Infantile Spinal Muscular Atrophy Definition and Description of Infantile Spinal Muscular Atrophy Infantile Spinal Muscular Atrophy (SMA) is a genetic disorder characterized by the loss of motor neurons in the spinal cord and the brainstem. This degeneration leads to muscle weakness and atrophy, primarily affecting the muscles responsible for movement. The severity of SMA symptoms…

  • Galactocerebroside Beta-Galactosidase Deficiency

    Galactocerebroside Beta-Galactosidase Deficiency Galactocerebroside Beta-Galactosidase Deficiency Definition and Description of Galactocerebroside Beta-Galactosidase Deficiency Galactocerebroside Beta-Galactosidase Deficiency, also known as Krabbe disease, is a rare genetic disorder that primarily affects the nervous system. This condition is characterized by the deficiency of the enzyme galactocerebrosidase (GALC), responsible for breaking down galactolipids in the myelin sheath. Without this…

  • Galactose-1-Phosphate Uridyl Transferase Deficiency

    Galactose-1-Phosphate Uridyl Transferase Deficiency Definition and Description of Galactose-1-Phosphate Uridyl Transferase Deficiency Galactose-1-Phosphate Uridyl Transferase Deficiency (GALT deficiency) is a rare genetic disorder that significantly impacts the body’s ability to metabolize galactose, a sugar found in milk and dairy products. This condition arises from mutations in the GALT gene, which is crucial for transforming galactose-1-phosphate…

  • Galactosemia

    Galactosemia Definition and Description of Galactosemia Galactosemia is a rare genetic metabolic disorder characterized by the body’s inability to properly metabolize galactose, a sugar present in milk and dairy products. This condition is caused by a deficiency in one of the enzymes responsible for converting galactose into glucose, which is the main source of energy…

  • 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…

  • Classic Galactosemia

    Classic Galactosemia Definition and Description of Classic Galactosemia Classic Galactosemia is a rare genetic disorder that affects how the body processes galactose, a sugar found in milk and dairy products. This condition arises from a deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT), which is crucial for breaking down galactose into glucose. Without proper enzyme function,…

  • 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…