Learn About Abetalipoproteinemia
Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. Many of the signs and symptoms of abetalipoproteinemia result from a severe shortage (deficiency) of fat-soluble vitamins (vitamins A, E, and K). The signs and symptoms of this condition primarily affect the gastrointestinal system, eyes, nervous system, and blood.
Abetalipoproteinemia is caused by mutations in the MTTP gene, which provides instructions for making a protein called microsomal triglyceride transfer protein. This protein is essential for creating molecules called beta-lipoproteins in the liver and intestine. Beta-lipoproteins transport fats, cholesterol, and fat-soluble vitamins from the intestine to the bloodstream so these nutrients can be taken up by tissues throughout the body. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth, development, and maintenance of the body's cells and tissues.
Abetalipoproteinemia is a rare disorder. More than 100 cases have been described worldwide.
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.
Texas Health Family Care
Richard Townsend is a primary care provider, practicing in General Practice in Richardson, Texas. Dr. Townsend is rated as an Advanced provider by MediFind in the treatment of Abetalipoproteinemia. His top areas of expertise are Vitamin D Deficiency, Gilbert Syndrome, High Cholesterol, and Nephrosclerosis.
Texas Health Family Care
Karna Gocke is a primary care provider, practicing in Family Medicine in Prosper, Texas. Dr. Gocke is rated as an Advanced provider by MediFind in the treatment of Abetalipoproteinemia. Her top areas of expertise are Vitamin D Deficiency, Peripheral Neuropathy, Familial Hypertriglyceridemia, Obesity, and Intrauterine Device Insertion.
Texas Health Family Care
Emily Jones is a primary care provider, practicing in Family Medicine in Richardson, Texas. Dr. Jones is rated as an Advanced provider by MediFind in the treatment of Abetalipoproteinemia. Her top areas of expertise are Obesity, Familial Hypobetalipoproteinemia, Familial HDL Deficiency, and Fish-Eye Disease.
Summary: The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on the...
Published Date: February 01, 2018
Published By: National Institutes of Health