Bassen-Kornzweig syndromeAbetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency
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...
- 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 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
- 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)
- Cholesterol studies
- Eye exam
- Nerve conduction velocity
- Stool sample analysis
Genetic testing may be available for mutations in the MTP gene.
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...
Vitamin D is a fat-soluble vitamin. Fat-soluble vitamins are stored in the body's fatty tissue.
Linoleic acid supplements are also recommended.
People with this condition should talk to a nutritionist. Diet changes are needed to prevent stomach problems. This involves:
- Limiting fat intake to 5 to 20 grams per day.
- Do not eat more than 5 ounces daily (140 grams) of lean meat, fish, or poultry.
- Use skim milk instead of whole milk.
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.
How well a person does depends on the amount of brain and nervous system problems.
Complications may include:
- Mental deterioration
- Loss of function of peripheral nerves, uncoordinated movement (ataxia)
When to Contact a Medical Professional
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.
Kliegman RM, Stanton BF, St. Geme JW, Schor NF. Defects in the metabolism of lipids. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 86.
Review Date: 8/1/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.