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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Articles needing additional references from January All articles needing additional references Infobox medical condition new. Talking to your MD. When to Contact a Medical Professional. Handbook of clinical neurology. There is complete absence of apolipoprotein B and lipoproteins from plasma, and absence of apo-LDL low-density lipoprotein from plasma confirms the diagnosis. Sign in to download free article PDFs Sign in to access your subscriptions Sign in to your personal account.

Malabsorption Syndromes Read more. These symptoms usually appear en bassen-kornzweit. Detailed information Professionals Summary information Slovakpdf Review article English Clinical practice guidelines Deutsch Guidance for genetic testing Englishpdf Clinical genetics review English Defects in the metabolism of lipids.

Electromyography EMG is a test that checks the health of the muscles and the nerves that control the muscles. 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 may also refer to a loss of syyndrome that cannot be corrected with glasses or contact lenses.

It is an autosomal recessive condition that more often affects males. Call your provider if your infant or child has symptoms of this disease. Nelson Textbook of Pediatrics.


They should be used with caution, because they may cause liver damage.

Bassen-Kornzweig syndrome

Vitamin K Vitamin K is a fat-soluble vitamin. Support Center Support Center. Causes Abetalipoproteinemia is caused by mutations in the MTTP gene and is inherited as an autosomal recessive genetic condition. One oral dose ofIU of vitamin A palmitate maintains serum levels in the normal range for several months.

Purchase access Subscribe bassen-kornzwig. Vitamin D supplementation may help alleviate some of the symptoms associated with bone growth.

Between the ages of 2 and 20 years, a variety of neurological complications occur that resemble spinocerebellar degeneration, a general term for a group of disorders characterized by progressive impairment of the ability to coordinate voluntary movements due to degeneration of certain structures in syjdrome brain cerebellar ataxia.

All individuals carry some abnormal genes.

Abetalipoproteinemia is more prevalent in populations with a high incidence of consanguineous marriages. Reduced electroretinographic responses are present early in the course of the disease.

Fat-soluble vitamins cannot be normally incorporated into chylomicra for transportation to the liver from the intestine. General Discussion Summary Abetalipoproteinemia is a rare inherited disorder affecting fat absorption by the intestine and mobilization by the liver. Diet changes are needed to prevent stomach problems.

Orphanet: Abetalipoproteinemia

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.


Baasen-kornzweig should be used with caution, because they may cause liver damage. Pediatric Corneal Opacities Disease Review. Create a personal account to register for email alerts with links to free full-text articles. How well a person does depends on the amount of brain and nervous system problems.

Multimedia Encyclopedia

Basxen-kornzweig is a progressive disorder that can affect many different systems of the body multisystem disorder.

Life expectancy is reduced, and death often occurs from cardiac arrhythmias. Associated Data Supplementary Materials. Affected individuals may also develop degeneration of the retina of the eyes potentially resulting in loss of vision, a condition known as retinitis pigmentosa.

Bassen-Kornzweig syndrome: MedlinePlus Medical Encyclopedia

The Turkish journal of pediatrics. A complete blood count CBC test measures the following: InfancyNeonatal ICD Abetalipoproteinemia affects both males and females. This increases the risk of having children with a recessive genetic bassen-kornweig. Individuals with abetalipoproteinemia may also have blood abnormalities including a condition called acanthocytosis in which deformed i.

Proteins are the building blocks of life. Protein Proteins are the building blocks of life.

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.