Question: abetalipoproteimemia hi, I would like to know if there is any support for those suffering with abetalipoproteinemia? I am not diagnosed but have had many test that indicate I am suffering with this, keen to learn how to get it diagnosed and how to manage, many thanks

Reference:
Bassen-Kornzweig syndrome: 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.   It is an autosomal recessive condition that more often affects males. 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 There may be damage to the retina of the eye (retinitis pigmentosa).   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   - Electromyography   - Eye exam   - Nerve conduction velocity   - Stool sample analysis      Genetic testing may be available for mutations in the MTP gene. Treatment involves large doses of vitamin supplements containing fat-soluble vitamins (vitamin A, vitamin D, vitamin E, and vitamin K).   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:     - Blindness   - Mental deterioration   - Loss of function of peripheral nerves, uncoordinated movement (ataxia) 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. Updated 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.

Answer: Abetalipoproteimemia, also known as Bassen-Kornzweig syndrome, is diagnosed using blood tests for Apolipoprotein B, vitamin deficiencies, malformation of red blood cels, complete blood count and cholesterol. Other tests include  electromyography, eye exams, nerve conduction velocity, stool sample analysis, and  genetic testing  for mutations in the MTP gene. Large doses of  fat-soluble vitamins (vitamin A, vitamin D, vitamin E, and vitamin K) are used for treatment. Linoleic acid supplements are also recommended. A nutritionist can recommend diet changes to prevent stomach problems. You need to limit fat intake to 5 to 20 grams per day, and lean meat, fish, or poultry to no more than 5 ounces daily (140 grams.)  Your health care provider might recommend taking medium-chain triglycerides.