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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Ataxia bassen-kornzweiig vitamin E deficiency AVED is a rare inherited neurodegenerative disorder characterized by impaired ability to coordinate voluntary movements ataxia and disease of the peripheral nervous system peripheral neuropathy. Mutations of the MTTP gene lead to low levels of functional MTP, which in turn, hinders the liver and intestines from making and secreting apoB-containing lipoproteins. If treatment is initiated early in disease the neurologic sequelae may be reversed and further deterioration can be prevented.

Abetalipoproteinemia is more prevalent in populations with a high incidence of consanguineous marriages. NORD gratefully acknowledges M.

Additionally, several studies have shown that MTP is expressed in the heart and is involved in exporting lipids out of the heart. Am J Hum Genet. The bassen-oornzweig nervous system contains all of the nerves outside of the central nervous bzssen-kornzweig. Low levels of MTP may lead to fat accumulation in the heart and affect heart function. Vitamin D supplementation may help alleviate some of the symptoms associated with bone growth.


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Abetalipoproteinemia – NORD (National Organization for Rare Disorders)

Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency. This article has been cited by other articles in PMC.

Treatment normally syndeome of rigorous dieting, involving massive amounts of vitamin E. Images in this article Fig. The retina is the layer of tissue at the back of the inner eye. Ptosis, ophthalmoplegia, strabismus, and nystagmus are less common findings. Fat-soluble vitamins are stored in the body’s fatty tissue.

Views Read Edit View history. Links to PubMed are also available for Selected References. Our website uses cookies to enhance your experience. Standard Therapies Treatment The treatment of abetalipoproteinemia is directed toward the specific symptoms that are apparent in each individual.

Patients should be closely monitored every months. Orphanet J Rare Dis. There are crenated or “thorny” red cells on blood smear acanthocytosis Figure 1.

Bassen-Kornzweig syndrome. Present status.

Genetic counseling bassen-kornzweigg help families understand the condition and the risks of inheriting it, and learn how to care for the person. Copyright and License information Disclaimer. Recessive genetic disorders occur when an individual inherits two abnormal alleles for the same trait from each parent. Treatment may require the coordinated efforts of a team of specialists.


There are no comments available. Support Center Bassen-kornzweg Center. Genetic diseases are determined by two alleles, one received from the father and one from the mother. Symptoms can include steatorrhea, ataxia, retinitis pigmentosa, and neuropathy.

If left untreated, visual acuity may deteriorate to virtual blindness by the fourth decade of life. Hepatic ultrasound can be performed to detect the presence synvrome fatty liver. Such symptoms include pale, bulky foul-smelling stools steatorrheadiarrhea, vomiting, and swelling distension of the abdomen.

This increases the risk of having children with a recessive genetic disorder. Related Disorders Symptoms of the following disorders can be similar to those of abetalipoproteinemia. Bassen-Kornzweig syndrome is caused by a defect in a gene that tells the body to create lipoproteins molecules of fat combined with protein. Blindness Mental deterioration Loss of function of peripheral nerves, uncoordinated movement ataxia. Genetic counseling can help families understand the condition and the risks of inheriting it, and learn how to care for the person.