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BASSEN-KORNZWEIG SYNDROME PDF

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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Bassen-Kornzweig syndrome is a rare disease passed down through families. The person is unable to fully absorb dietary fats through the intestines. Bassen-Kornzweig syndrome is caused by a defect in a gene that tells the body to create lipoproteins molecules of fat combined with protein.

The defect makes it hard for the body to properly digest fat and essential vitamins. Proteins are the building blocks of life. Every cell in the human body contains protein.

The basic structure of protein is a chain of amino acids. It is an autosomal recessive condition that more often affects males. Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me There may be damage to the retina of the eye retinitis pigmentosa.

Retinitis pigmentosa is an eye disease in which there is damage to the retina. The retina is bassen-kornaweig layer of tissue at the back of the inner eye.

Abetalipoproteinemia

Apolipoprotein B apoB is a protein that plays a role in moving cholesterol around your body. It is a form of low density lipoprotein LDL.

A complete blood count CBC test measures the following: Electromyography EMG is a test that checks the health of the muscles and the nerves that control the muscles.

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A standard ophthalmic exam is a series of tests done to check your vision and the health of your eyes. Nerve conduction velocity NCV is a test to see how fast electrical signals move through a nerve.

Genetic testing may be available for mutations in the MTP gene. Treatment involves large doses of vitamin supplements containing fat-soluble vitamins vitamin Avitamin Dvitamin Eand vitamin K. Vitamin A is a fat-soluble vitamin that is stored in the liver.

There are bassen-oornzweig types of vitamin A that are found in the diet.

Preformed vitamin A is People with this condition should talk to a nutritionist. Diet changes are needed to prevent stomach problems. Supplements of medium-chain triglycerides are taken under the supervision of a health care provider. They should be used with caution, because they may cause liver damage. Blindness bassen-kornzwfig a lack of vision.

It may also refer to a loss of vision that cannot be corrected with glasses or contact lenses. Call your provider if your infant or child has symptoms of this disease. Genetic counseling can help families understand the condition and the risks of inheriting it, and learn how to care for the person.

High doses of fat-soluble vitamins may slow the progression of some problems, such as retina damage and decreased vision. Defects in the metabolism of lipids. Nelson Textbook of Pediatrics. Review provided by VeriMed Healthcare Network. Protein Proteins are the building blocks of life.

Autosomal recessive Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families.

Abetalipoproteinemia – Wikipedia

Retinitis pigmentosa Retinitis pigmentosa is an bassen-kornzdeig disease in which there is damage to the retina. Apolipoprotein B Apolipoprotein B apoB is a protein that plays a role in moving cholesterol around your body. Complete blood count A complete blood count CBC test measures the following: Electromyography Electromyography EMG is a test that checks the health of the muscles and the nerves that control the muscles.

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

Nerve conduction velocity Nerve conduction velocity NCV is a test to see how fast electrical signals move through a nerve. Vitamin A Vitamin A is a fat-soluble vitamin that is stored in the liver.

Vitamin D Vitamin D is a fat-soluble vitamin. Fat-soluble vitamins are stored in the body’s fatty tissue. Vitamin E Vitamin E is a fat-soluble vitamin. Vitamin K Vitamin K is a fat-soluble vitamin. Blindness Blindness is a lack of vision. All Video Images Tog. Talking to your MD.

Health Illustrated Encyclopedia – Bassen-Kornzweig syndrome

Tests for Bassen-Kornzweig syndrome. Failure to thrive Condition. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only — they do not constitute endorsements of those other sites.

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