Abetalipoproteinemia: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats abetalipoproteinemia?
Abetalipoproteinemia, a rare inherited condition that prevents the body from properly absorbing certain fats and vitamins, is managed together by an endocrinologist (hormone doctor) and a gastroenterologist (digestive system doctor). A medical geneticist can also help coordinate care and confirm the diagnosis. Treatment centers on a special diet and vitamin support to help slow nerve and vision problems over time.
What is abetalipoproteinemia?
It is a rare inherited disorder. The body cannot take in fats and some vitamins from food the right way. A change in the MTTP gene causes it. This gene tells the body how to make a needed protein. The protein helps build beta-lipoproteins (tiny packages in the blood). They carry fats and vitamins from the gut to the blood.
Without them, the body cannot take in vitamins A, E, and K well. Many problems come from this shortage. The condition mainly affects the gut, eyes, nerves, and blood. It is rare. More than 100 cases have been found worldwide.
Symptoms
The first signs show up in infancy. They include:
- Slow growth and poor weight gain (faltering weight).
- Diarrhea and fatty, foul-smelling stools (steatorrhea).
As a child grows, nerve problems can start. Coordination and balance can get poor (ataxia). Speech can slur. A child may have shakes, weak muscles, or lost feeling in the hands and feet. Other signs include:
- An eye problem called retinitis pigmentosa. The light-sensing layer at the back of the eye breaks down. It can cause vision loss.
- Involuntary eye movements (nystagmus).
- Few red blood cells (anemia) with star-shaped cells. The blood may not clot well.
- Fatty liver. In some cases, it can harm the liver.
Causes and who gets it
A change in the MTTP gene causes this condition. More than 30 such changes have been found. It is passed down in an autosomal recessive pattern. That means a child must get a changed gene from both parents. Each parent carries one changed copy. Usually they have no signs.
How doctors diagnose it
Blood tests can show the problem. Cholesterol studies can help. So can an apolipoprotein B test (a blood test for a protein that carries fat). Blood tests can find low vitamins A, D, E, and K. Doctors can also test a stool sample. An eye exam checks the retina (the light-sensing layer). Genetic testing may be available to find changes in the MTTP gene.
Treatment
Treatment uses large doses of vitamins. These are the fat-soluble vitamins A, D, E, and K. Your doctor decides how much of each one to take. Linoleic acid supplements (a type of fat) are also recommended. A dietitian (a food expert) plans a low-fat diet that limits long-chain fats, a common type of fat in food. Very large doses of vitamin E are a main part of care.
Pills with medium-chain triglycerides (a special type of fat) are taken only under a doctor's care. They may cause liver damage, so doctors use them with caution. High doses of fat-soluble vitamins may slow the progression of some problems. These include retina damage and decreased vision. An eye doctor checks the retina on a regular schedule, and a nerve doctor (neurologist) watches for balance and nerve problems.
When to see a doctor
Call the doctor right away if your baby has fatty stools or poor weight gain. Slurred speech also needs care fast. Weaker eyesight needs prompt care too. Vision loss can become complete. Call 911 for bleeding that will not stop. Genetic counseling can help families learn the risks of passing it on.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. This doctor can watch your child's growth, help with the diet plan, and line up care with the specialists. They can also order blood tests to check vitamin levels.
Common questions
What are the symptoms of abetalipoproteinemia?
Symptoms can include poor growth, fatty stools, and later nerve and vision problems if fat-soluble vitamins are not properly absorbed. Symptoms first appear in infancy.
Can a direct primary care doctor manage abetalipoproteinemia?
A direct primary care doctor cannot manage this rare condition alone, but can help coordinate the diet plan, monitor growth, and work closely with the gastroenterologist and geneticist who guide specialized treatment.
Is abetalipoproteinemia inherited?
Yes, abetalipoproteinemia is inherited when a child receives a changed copy of the responsible gene from both parents. A medical geneticist can confirm this with testing and counsel the family about future pregnancies.
Sources
- MedlinePlus Genetics - Abetalipoproteinemia
- NCBI Bookshelf - Abetalipoproteinemia (StatPearls)
- MedlinePlus - Bassen-Kornzweig syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
