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: Zologis Yoran
Country: Peru
Language: English (Spanish)
Genre: Art
Published (Last): 25 May 2015
Pages: 469
PDF File Size: 9.8 Mb
ePub File Size: 7.3 Mb
ISBN: 334-6-17556-944-4
Downloads: 50036
Price: Free* [*Free Regsitration Required]
Uploader: Zugal

These basen-kornzweig result from poor absorption of fat from the diet. Together we are strong. InfancyNeonatal ICD Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. Abetalipoproteinemia is inherited as an autosomal recessive trait and is caused by mutations in the microsomal triglyceride transfer protein MTTP gene.

Abetalipoproteinemia is a disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food.

Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially vitamin E deficiency, which typically results in eye problems with degeneration of the spinocerebellar and dorsal column tracts.

Related Disorders Symptoms of the following disorders can be similar to those of abetalipoproteinemia. Nelson Textbook of Pediatrics. If an individual receives one normal allele and one allele for the disease, the person will be a carrier for the disease, but usually will not show symptoms. Vitamin K supplementation may be necessary to prevent bleeding.

Genetic counseling is recommended for families of children with abetalipoproteinemia. Handbook of clinical neurology. Bassen-kornzweif Published, Open in a separate window.

People with this condition should talk to a nutritionist.

Create a free personal account to make a comment, download free article PDFs, sign up for alerts and more. Symptoms usually become apparent during infancy. Acanthocytosis occurs in some cases as well.


A standard ophthalmic exam is a series of tests done to check your vision and the health of your eyes.

On having no beta-lipoprotein. Introduction Abetalipoproteinemia was first reported in the medical literature by doctors Bassen and Kornzweig in and is also known as Bassen-Kornzweig syndrome. People with this condition should talk to a nutritionist. D ICD – Tests for Bassen-Kornzweig syndrome.

Blindness Mental deterioration Loss of function of peripheral nerves, uncoordinated movement ataxia.

Bassen-Kornzweig syndrome: MedlinePlus Medical Encyclopedia

The defect makes it hard for the body to properly digest fat and essential vitamins. Midperipheral bony spicule pigmentary changes in same patient right. Vitamin D supplementation may help alleviate some of the symptoms associated with bone growth.

General Discussion Summary Abetalipoproteinemia is a rare inherited disorder affecting fat absorption by the intestine and mobilization by the liver. The documents contained in this web site are presented for information purposes only. Reduced electroretinographic responses are present early in the course of the disease. Protein Proteins are the building blocks of life. Ocular histopathologic changes in a case of a-beta-lipoproteinemia Bassen-Kornzweig syndrome.

Multimedia Encyclopedia

Treatment The treatment of abetalipoproteinemia is directed toward the specific symptoms that are apparent in each individual. Abetalipoproteinemia affects the absorption of dietary fats, cholesteroland certain vitamins. Autosomal recessive disorders Lipid metabolism disorders Rare diseases Syndromes. There sgndrome no known racial or ethnic preferences for the disorder.

This may involve limiting intake of some types of fat.

Symptoms of the following disorders can be similar to those of abetalipoproteinemia. Recent research has determined that MTP is also involved in the maturation of a family of proteins known as CD1, which are involved in lipid antigen-presentation to immune cells. The basic synerome of protein is a chain of amino acids. 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.


Create a personal account to register for email alerts with links to free full-text articles. Syndromee leads to a multiple vitamin deficiency, affecting the fat-soluble vitamin Avitamin Dvitamin Eand vitamin K.

Diet changes are needed to prevent stomach problems. Vitamin D Vitamin D is a fat-soluble vitamin. Acanthocytosis may result in low levels of circulating red blood cells anemia. Linoleic acid supplements are also recommended. Bassen-Kornzweig syndrome is caused by a defect in a gene that tells the body to create lipoproteins molecules of fat combined with protein. It is often associated with growth delay, hepatomegaly with steatosis, diarrhea with steatorrhea, and fat malabsorption.

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.

Bassen-Kornzweig syndrome. Present status.

Patients should receive frequent dietary counseling. Affected individuals may also develop slurred speech dysarthriacharacteristic foot deformities; and irregular lateral or sideways curvature of the spine scoliosis.

Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency. In rare cases, fibrosis or scarring of the liver cirrhosis has also been reported. These symptoms usually appear en masse.

Posted in Sex