Abetalipoproteinemia is a disorder that interferes with the normal absorption of fat and Abetalipoproteinemia. Synonyms, Bassen-Kornzweig syndrome. Bassen-Kornzweig disease; Homozygous familial hypobetalipoproteinemia. Prevalence: <1 / 1 ; Inheritance: Autosomal recessive; Age of onset: Infancy. BASSEN FA, KORNZWEIG AL. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood. Apr;5(4)– [PubMed]; DRUEZ G .

Author: Meztijora Malakazahn
Country: Honduras
Language: English (Spanish)
Genre: Education
Published (Last): 18 February 2006
Pages: 495
PDF File Size: 15.73 Mb
ePub File Size: 14.53 Mb
ISBN: 596-1-54361-569-7
Downloads: 55095
Price: Free* [*Free Regsitration Required]
Uploader: Vorr

Life expectancy is reduced, and death often occurs from cardiac arrhythmias. Celiac disease is a digestive disorder characterized by intolerance to dietary gluten, which is a protein found in wheat, rye, and barley. The reduction of the intake of dietary fats generally relieves gastrointestinal symptoms.

Bassen-Kornzweig syndrome. Present status.

One oral dose ofIU of vitamin A palmitate maintains serum levels in the normal range for several months. Patients should be closely monitored every months.

Blindness Blindness is a lack of vision. This may involve limiting intake of some types of fat. This leads to a multiple vitamin deficiency, affecting the fat-soluble vitamin Avitamin Dvitamin Eand vitamin K.

On intestinal biopsyvacuoles containing lipids are seen in enterocytes. Evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient”. This article needs additional citations for verification. Register for email alerts with links to free full-text articles Basesn-kornzweig PDFs of free articles Manage your interests Save searches and receive search alerts.

All individuals carry some abnormal genes. The prognosis of patients is highly variable. New insights into lipoprotein assembly and vitamin E metabolism syndroem a rare genetic disease.


Posterior pole of patient with abetalipoproteinemia showing pale optic nerve head, attenuated blood vessels and atrophic retina left. Often bassn-kornzweig will arise that indicate the body is not absorbing or making the lipoproteins that it needs.

The identification of malformed red blood cells acanthocytosis may also be detected by blood tests. Resources Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder. Review provided by VeriMed Healthcare Network. High doses of fat-soluble vitamins may slow the progression of some problems, such as retina damage and decreased vision.

Abetalipoproteinemia Apolipoprotein B deficiency Chylomicron retention disease. Multiple functions of microsomal triglyceride transfer protein. Management and treatment Management should be undertaken in specialized centers. Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. Diets in infants may be supplemented with medium chain fatty synrome, which can be transported in the blood without apoB-containing lipoproteins, in order to promote normal growth and development.

For information about clinical trials conducted in Europe, contact: Trans Am Neurol Assoc.

The role of microsomal triglyceride transfer protein syndrime abetalipoproteinemia. Early detection, treatment, and fat soluble vitamin supplementation can help curtail some of the neurological and ophthalmological deficiencies.


Review provided by VeriMed Healthcare Network. Balance and coordination difficulties Curvature of spine Decreased vision that gets worse over time Developmental delay Failure to thrive grow in infancy Muscle weakness Poor muscle coordination that usually develops after age 10 Protruding abdomen Slurred speech Stool abnormalities, including fatty stools that appear pale in color, frothy stools, and abnormally foul-smelling stools.


Abetalipoproteinemia affects the absorption of dietary fats, cholesteroland certain vitamins. Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency.

Any duplication or distribution of the information contained herein is strictly prohibited. For information about clinical trials sponsored by private sources, contact: Dietary restriction of triglycerides has also been useful. Contrary to abetalipoproteinemia, the presence of only one altered allele is sufficient to display symptoms of the disease. The retina is the layer of tissue at the back of the inner eye.

Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. There are no known racial or ethnic preferences for the disorder. This article has been cited by other articles in PMC. Some individuals may also experience irregularities in heart syndrom cardiac arrhythmias.

Bassen-Kornzweig syndrome: MedlinePlus Medical Encyclopedia

Vitamin A Vitamin A is a fat-soluble vitamin that is stored in the liver. Gene therapy has been studied as another approach to stndrome individuals with abetalipoproteinemia. Treatment involves large doses of vitamin supplements containing fat-soluble vitamins vitamin Avitamin Dvitamin Eand vitamin K. Genetic testing may be available for mutations in the MTP gene.

Antenatal diagnosis Prenatal diagnosis is possible when the causal mutations in both parents are known.