Tag: genetic disorder

  • 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…

  • Homozygous Familial Hypercholesterolemia

    Homozygous Familial Hypercholesterolemia Definition and Description of Homozygous Familial Hypercholesterolemia Homozygous Familial Hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely high levels of low-density lipoprotein (LDL) cholesterol in the bloodstream. This condition arises due to mutations in the LDL receptor gene, which leads to a severely impaired ability to remove LDL cholesterol from…

  • Hemorrhagic Telangiectasia, Hereditary (HHT)

    Hemorrhagic Telangiectasia, Hereditary (HHT) Definition and Description of Hemorrhagic Telangiectasia, Hereditary (HHT) Hemorrhagic Telangiectasia, Hereditary (HHT), also known as Osler-Weber-Rendu syndrome, is a genetic disorder characterized by the development of abnormal blood vessels. These blood vessels tend to be fragile and can lead to frequent nosebleeds, as well as other bleeding complications in various organs,…

  • Hemophilia A

    Hemophilia A Definition and Description of Hemophilia A Hemophilia A is a genetic bleeding disorder characterized by the deficiency of clotting factor VIII, which is essential for proper blood coagulation. This condition primarily affects males, as it is inherited in an X-linked recessive manner. Patients with Hemophilia A experience prolonged bleeding, which can occur spontaneously…

  • Glucocerebrosidosis

    Glucocerebrosidosis Definition and Description of Glucocerebrosidosis Glucocerebrosidosis, also known as Gaucher’s disease, is a rare genetic disorder caused by the accumulation of glucocerebroside due to a deficiency of the enzyme glucocerebrosidase. This enzyme is essential for the breakdown of glucocerebroside, a fatty substance found in cells. The condition leads to the enlargement of organs such…

  • Gilbert-Lereboullet Syndrome

    Gilbert-Lereboullet Syndrome Definition and Description of Gilbert-Lereboullet Syndrome Gilbert-Lereboullet Syndrome is a benign liver condition characterized by an elevated level of bilirubin in the blood. It results from the liver’s inability to process bilirubin appropriately. This syndrome is caused by a genetic mutation that affects the enzyme responsible for bilirubin conjugation, resulting in unconjugated hyperbilirubinemia.…

  • Gangliosidosis GM2 Type 2

    Gangliosidosis GM2 Type 2 Definition and Description of Gangliosidosis GM2 Type 2 Gangliosidosis GM2 Type 2, also known as Tay-Sachs disease, is a genetic disorder that affects the body’s ability to break down certain fats known as gangliosides. This condition is caused by a deficiency in the enzyme Hexosaminidase A (Hex-A), which is essential for…

  • Gaucher Disease

    Gaucher Disease Definition and Description of Gaucher Disease Gaucher Disease is a rare genetic disorder caused by a deficiency of the enzyme glucocerebrosidase. This enzyme is essential for the breakdown of glucocerebroside, a fatty substance found in the body. When it is not functioning properly, glucocerebroside accumulates in certain cells, leading to a variety of…

  • Gaucher-Schlagenhaufer

    Gaucher-Schlagenhaufer Definition and Description of Gaucher-Schlagenhaufer Gaucher-Schlagenhaufer is a rare genetic disorder stemming from the deficiency of the enzyme glucocerebrosidase. This deficiency leads to the accumulation of harmful substances in various organs, particularly the spleen, liver, bones, and, in some cases, the brain. The disease can manifest in various forms, primarily categorized into Type 1…

  • Galactocerebrosidase (GALC) Deficiency

    Galactocerebrosidase (GALC) Deficiency Definition and Description of Galactocerebrosidase (GALC) Deficiency Galactocerebrosidase (GALC) deficiency is a rare inherited metabolic disorder characterized by the deficiency of the galactocerebrosidase enzyme. This enzyme is essential for the breakdown of galactolipids, which are crucial components of myelin, the protective sheath that surrounds nerve fibers in the central nervous system. The…