Tag: genetic disorder

  • Galactocerebrosidase Deficiency

    Galactocerebrosidase Deficiency Definition and Description of Galactocerebrosidase Deficiency Galactocerebrosidase Deficiency, also known as Krabbe disease, is a rare genetic disorder that affects the nervous system. It is caused by a deficiency of the enzyme galactocerebrosidase, which is vital for the breakdown of specific fats in the brain and other tissues. This deficiency leads to the…

  • 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…

  • 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…

  • Fragile X Syndrome

    Fragile X Syndrome Definition and Description of Fragile X Syndrome Fragile X Syndrome is a genetic disorder caused by a mutation in the FMR1 gene on the X chromosome, which leads to a deficiency in the Fragile X Mental Retardation Protein (FMRP). This syndrome is characterized by developmental delays, cognitive impairments, and social anxiety. It…

  • Fabry Disease

    Fabry Disease Definition and Description of Fabry Disease Fabry Disease is a rare genetic disorder that results from a deficiency of the enzyme alpha-galactosidase A (GLA). This enzyme is crucial for the metabolism of certain lipids, specifically globotriaosylceramide. When GLA is deficient, toxic levels of these lipids build up in the body, particularly affecting the…

  • Facioscapulohumeral Muscular Dystrophy

    Facioscapulohumeral Muscular Dystrophy Definition and Description of Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic disorder characterized by progressive weakness and wasting of the muscles in the face, shoulders, and upper arms. It is one of the most common types of muscular dystrophy, affecting approximately 1 in 20,000 people worldwide. FSHD is caused…

  • Edward’s Syndrome

    Edward’s Syndrome Definition and Description of Edward’s Syndrome Edward’s Syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra 18th chromosome in a person’s cells. This condition is characterized by a spectrum of developmental and physical abnormalities, affecting multiple organ systems. The severity of symptoms can vary greatly;…

  • EB

    Understanding Epidermolysis Bullosa (EB) Definition and Description of EB Epidermolysis Bullosa (EB) is a rare genetic disorder characterized by fragile skin that blisters easily in response to minor injuries, heat, or friction. The condition results from mutations in genes responsible for producing proteins that help anchor the layers of skin together. This leads to a…

  • Ectodermal Dysplasia, Rapp-Hodgkin type

    Ectodermal Dysplasia, Rapp-Hodgkin type Definition and Description of Ectodermal Dysplasia, Rapp-Hodgkin type Ectodermal Dysplasia, Rapp-Hodgkin type, is a genetic disorder characterized by the abnormal development of ectodermal structures. It primarily affects the skin, hair, nails, and teeth, resulting in a variety of physical anomalies. This type of ectodermal dysplasia is hereditary and often leads to…