Bassen-Kornzweig syndrome
Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiencyBassen-Kornzweig syndrome is a rare disease passed down through families. The person is unable to fully absorb dietary fats through their intestines.
Causes
Bassen-Kornzweig syndrome is caused by changes in the MTTP gene that tells the body to create lipoproteins (molecules of fat combined with protein). These variants make it hard for the body to properly digest fat and essential vitamins.
Protein
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. ...
Symptoms
Symptoms include:
- Balance and coordination difficulties
- Curvature of spine
- Decreased vision that gets worse over time
- Developmental delay
- Failure to thrive (grow) in infancy
- Muscle weakness
- Poor muscle coordination that usually develops after age 10
- Protruding abdomen
- Slurred speech
- Stool abnormalities, including fatty stools that appear pale in color, frothy stools, and abnormally foul-smelling stools
Exams and Tests
There may be damage to the retina of the eye (retinitis pigmentosa).
Retinitis pigmentosa
Retinitis pigmentosa is an eye disease in which there is damage to the retina. The retina is the layer of tissue at the back of the inner eye. This...
Tests that may be done to help diagnose this condition include:
-
Apolipoprotein B blood test
Apolipoprotein B
Apolipoprotein B100 (apoB100) is a protein that plays a role in moving cholesterol around your body. It is a form of low density lipoprotein (LDL). ...
Read Article Now Book Mark Article - Blood tests to look for vitamin deficiencies (fat-soluble vitamins A, D, E, and K)
- "Burr-cell" malformation of the red cells (acanthocytosis)
-
Complete blood count (CBC)
Complete blood count
A complete blood count (CBC) test measures the following:The number of white blood cells (WBC count)The number of red blood cells (RBC count)The numb...
Read Article Now Book Mark Article - Cholesterol studies
-
Electromyography
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
Eye exam
A standard eye exam is a series of tests done to check your vision and the health of your eyes.
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Nerve conduction velocity
Nerve conduction velocity
Nerve conduction velocity (NCV) is a test to see how fast electrical signals move through a nerve. This test is done along with electromyography (EM...
Read Article Now Book Mark Article - Stool sample analysis
Genetic testing may be available for genetic variants in the MTTP gene.
Treatment
Treatment involves large doses of vitamin supplements containing fat-soluble vitamins (vitamin A, vitamin D, vitamin E, and vitamin K).
Vitamin A
Vitamin A is a fat-soluble vitamin that is stored in the liver. There are two types of vitamin A that are found in the diet. Preformed vitamin A is f...
Vitamin D
Vitamin D is a fat-soluble vitamin. Fat-soluble vitamins are stored in the body's fatty tissue and liver.
Vitamin E
Vitamin E is a fat-soluble vitamin. Your body stores vitamin E in fatty tissue and the liver.
Vitamin K
Vitamin K is a fat-soluble vitamin. Your body stores vitamin K in the liver and other body tissues, including the brain, heart, pancreas, and bone....
Linoleic acid supplements are also recommended.
People with this condition should talk to a dietitian. Diet changes are needed to prevent stomach problems. This may involve limiting intake of some types of fat.
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.
Outlook (Prognosis)
How well a person does depends on the amount of brain and nervous system problems.
Possible Complications
Complications may include:
-
Blindness
Blindness
Blindness is a lack of vision. It may also refer to a loss of vision that cannot be corrected with glasses or contact lenses. Partial blindness mean...
Read Article Now Book Mark Article - Mental deterioration
- Loss of function of peripheral nerves, uncoordinated movement (ataxia)
When to Contact a Medical Professional
Contact 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.
Prevention
High doses of fat-soluble vitamins may slow the progression of some problems, such as retina damage and decreased vision.
References
Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Defects in metabolism of lipids. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 104.
Shamir R. Disorders of malabsorption. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 364.
Review Date: 9/18/2023
Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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