Tag: rare diseases

  • Giant Axonal Neuropathy

    Giant Axonal Neuropathy Definition and Description of Giant Axonal Neuropathy Giant Axonal Neuropathy (GAN) is a rare inherited neurological disorder characterized by damage to the peripheral nerves. It is caused by mutations in the gene responsible for producing the protein known as gigaxonin, which plays a critical role in the maintenance of nerve cells. This…

  • Gargoylism

    Understanding Gargoylism Gargoylism Definition and Description of Gargoylism Gargoylism, also known as Mucopolysaccharidosis Type I (MPS I), is a genetic disorder that results from the deficiency of specific enzymes necessary for the breakdown of glycosaminoglycans (GAGs). This leads to the accumulation of these substances in various tissues throughout the body. The condition is characterized by…

  • Gastrinoma

    Gastrinoma Definition and Description of Gastrinoma Gastrinoma is a rare type of neuroendocrine tumor that primarily arises in the pancreas or the duodenum, leading to the excessive secretion of gastrin, a hormone that stimulates the production of gastric acid. This overproduction can cause severe gastrointestinal complications, including Zollinger-Ellison syndrome, characterized by recurrent peptic ulcers and…

  • 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…

  • 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…

  • Fong Disease

    Fong Disease Definition and Description of Fong Disease Fong Disease is a rare and complex condition characterized by a range of symptoms affecting various body systems. It is often presented with multisystemic manifestations, including, but not limited to, dermatological, neurological, and respiratory issues. The precise definition of Fong Disease includes an abnormal response to certain…

  • Francois Dyscephaly Syndrome

    Francois Dyscephaly Syndrome Definition and Description of Francois Dyscephaly Syndrome Francois Dyscephaly Syndrome is a rare congenital disorder characterized by a specific set of physical abnormalities. It is primarily marked by facial dysmorphism, which may include features such as a flat face, cleft lip or palate, and underdeveloped facial bones. This syndrome is typically categorized…

  • Finnish Type Amyloidosis (Type V)

    Finnish Type Amyloidosis (Type V) Definition and Description of Finnish Type Amyloidosis (Type V) Finnish Type Amyloidosis, also known as Type V, is a hereditary form of amyloidosis that is primarily linked to genetic mutations in the transthyretin (TTR) gene. This disorder leads to the abnormal accumulation of amyloid proteins in various tissues and organs,…