What is Bassen-Kornzweig syndrome?
Bassen-Kornzweig syndrome is caused by a defect in a gene that tells the body to create lipoproteins (molecules of fat combined with protein). The defect makes it hard for the body to properly digest fat and essential vitamins.
Who found Abetalipoproteinemia?
Abetalipoproteinemia (ABL; OMIM 200100) is a rare metabolic disorder with a frequency <1 in 100,000. The clinical association of peripheral blood acanthocytosis with atypical retinitis pigmentosa and ataxia was first reported by Bassen and Kornzweig in 1950 .
How many cases of Abetalipoproteinemia are there?
The exact prevalence and incidence of abetalipoproteinemia is unknown, but it is estimated to affect less than 1 in 1,000,000 people in the general population. Abetalipoproteinemia affects both males and females.
How is Abetalipoproteinemia inherited?
Inheritance. This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Who discovered Usher syndrome?
Clinical and Genetic Features. Usher syndrome is named after Charles Usher, a British ophthalmologist who described the nature of the disease in 1914. Because it is autosomal recessive, all forms of Usher syndrome are inherited from not one but both parents.
What is absent in Abetalipoproteinemia?
Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder marked by low or absent levels of plasma cholesterol, low-density lipoproteins (LDLs), and very-low-density lipoproteins (VLDLs).
What does Abetalipoproteinemia mean?
Abetalipoproteinemia (also known as: Bassen-Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food.
What research is being done on Usher’s syndrome?
Researchers are studying the genes that cause Usher syndrome and looking for ways to find it earlier and treat it better, including ways to slow or stop the development of RP. Recent clinical trials are studying a new type of gene therapy that targets one of the most common mutations that cause Usher syndrome (USH2A).