Please be patient! It may take up to ONE minute to load all the Engines.
Problems? Please contact our support.
Alternative namesBassen-Kornzweig syndrome is a rare, inherited disease characterized by the inability to fully absorb dietary fats through the gut. It results in fatty stools, diarrhea, failure to thrive in infancy, and problems with nerves.
Causes, incidence, and risk factors
Bassen-Kornzweig syndrome is an autosomal recessive inherited disorder that affects both sexes, but predominantly males (70%). It is due to mutations in one of two genes: apolipoprotein B (APOB) or microsomal triglyceride transfer protein (MTP).
The syndrome causes the body not to make lipoproteins (molecules of fat combined with protein ) including low-density lipoproteins ( LDL ), very-low-density lipoproteins ( VLDL ), and chylomicrons (small molecules of fat in the blood).
Signs and tests
Consult a nutritionist or other medical professional for dietary instruction. Large doses of vitamin supplements containing the fat-soluble vitamins ( vitamin A , vitamin D , vitamin E and vitamin K ) are given.
To avoid intestinal symptoms, avoid eating long-chain triglycerides . Thus, the diet should contain no more than 5 ounces of lean meat, fish, or poultry per day. Use skim milk instead of whole milk.
Since a certain amount of fat is needed for normal growth and development in all people, medium chain triglycerides are alternatively used as the major source of fat in the diet. These are absorbed from the gut differently than other fats, and thus avoid the intestinal symptoms. Medium chain triglycerides are taken as a dietary supplement, typically under the supervision of a physician or nutritionist.
Expectations (prognosis)The outcome is related to the degree and progression of neurological and visual problems . Severe forms of the disease lead to irreversible neurologic disease before age 30.
Calling your health care providerCall if your infant or child exhibits symptoms of this disease.
PreventionHigh doses of fat soluble vitamins may be able to slow progression of some problems such as degeneration of the retina and decreased vision.
Update Date: 8/6/2003Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
Last updated: Tue, 06 Jan 2009 00:20:03 GMT