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 .

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Symptoms can include steatorrhea, ataxia, retinitis pigmentosa, and neuropathy.

Bassen-Kornzweig syndrome

Purchase access Subscribe to the journal. Abetalipoproteinemia is inherited as an autosomal recessive trait and is caused by mutations in the microsomal triglyceride transfer protein MTTP gene. Create a free personal account to make a comment, download free article PDFs, sign up for alerts and more. For information about clinical trials conducted in Europe, contact: For all other comments, please send your remarks via contact us.

Abetalipoproteinemia and homozygous hypobetalipoproteinemia: People affected by this disorder are not able to make certain lipoproteinswhich are molecules that consist of proteins syndroe with cholesterol synrdome particular fats called triglycerides. Midperipheral bony spicule pigmentary changes in same patient right.

Protein Proteins are the building blocks of life.

Eventually, affected individuals may be unable to stand or to walk unaided due to progressive neurological and skeletal abnormalities. Gassen-kornzweig that may be done to help diagnose this condition include: Such symptoms include pale, bulky foul-smelling stools steatorrheadiarrhea, vomiting, and swelling distension of the abdomen.

Additional information Bbassen-kornzweig information on this disease Classification s 7 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 6. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease”.


Gene therapy has been studied as another approach to bassen-kornzweg individuals with abetalipoproteinemia. There may be damage to the retina of the eye retinitis pigmentosa. The content of the website and databases of the National Organization for Rare Disorders NORD is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD.

Related Disorders Symptoms of the following disorders can be similar to those of abetalipoproteinemia.

White dots are present throughout the fundus and are most numerous in the periphery. Genetic basden-kornzweig may be available for mutations in the MTP gene. Early detection, treatment, and fat soluble vitamin supplementation can help curtail some of the neurological and ophthalmological deficiencies.

Bassen-Kornzweig syndrome: MedlinePlus Medical Encyclopedia

Diet changes are needed to prevent stomach bassen-kofnzweig. There are crenated or “thorny” red cells on blood smear acanthocytosis Figure 1. Micrograph showing enterocytes with a clear cytoplasm due to lipid accumulation characteristic of abetalipoproteinemia. Additional blood abnormalities may be due to vitamin K deficiency. Other features of this disorder may develop later in childhood and often impair the function of the nervous system.

Tests for Bassen-Kornzweig syndrome. High doses of fat-soluble badsen-kornzweig may slow the progression of some problems, such as retina damage and decreased vision. There are no comments available.

Compendium of Inherited Disorders and the Eye. Linoleic acid supplements are also recommended. People with this condition should talk to a nutritionist. Syndrrome provided by VeriMed Healthcare Network. Treatment involves large doses of vitamin supplements containing fat-soluble vitamins vitamin Avitamin Dvitamin Eand vitamin K. FRDA is often associated with cardiomyopathy, a disease of cardiac muscle that may lead to heart failure, which could present as shortness of breath upon exertion and chest pain.


If treatment is initiated early in disease the neurologic sequelae may be reversed and further deterioration can be prevented. This, in turn, results in syndroome inability to properly absorb and transport fats and fat soluble vitamins throughout the body.

The oral administration of high doses of fat-soluble vitamins e. One of the most significant features of the syndrome to be described is that it is the first of the hereditary ataxias in which there is a clue to the metabolic defect. Investigational Therapies Gene therapy has been studied as another approach to treat individuals with abetalipoproteinemia. Abetalipoproteinemia is caused by mutations in the MTTP gene and is inherited as an autosomal recessive genetic condition.

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Sign in to save your search Sign in to your personal account. Retinitis pigmentosa is an eye disease in which there is damage to the retina. Acanthocytosis and neurological disorders. Bassen-kornzwig information Professionals Summary information Slovakpdf Review article English Clinical practice guidelines Deutsch Guidance for genetic testing Englishpdf Clinical genetics review English