What is Abetalipoproteinemia?

Written by Medicover Team and Medically Reviewed by Dr R Prasanth , Gastroenterologists Medical

---

Abetalipoproteinemia is a very rare genetic disorder that affects how the body absorbs fat and certain important vitamins from food. These include the fat-soluble vitamins: A, D, E, and K. The problem happens because the body cannot make a special protein called apolipoprotein B, which is needed to move fats through the blood.

What are the Symptoms of Abetalipoproteinemia?

The signs of abetalipoproteinemia can differ from child to child, but many symptoms start early. These happen because the body is not getting the fats and vitamins it needs. Common symptoms include:

If the condition is not treated early, these symptoms may get worse over time. Long-term damage can affect the eyes, nerves, and movement.

---

What are the Causes and Risk Factors of Abetalipoproteinemia?

Abetalipoproteinemia is caused by a change (mutation) in a gene called MTTP. This gene tells the body how to make the protein that helps move fats and fat-soluble vitamins from the intestines into the bloodstream.

When the MTTP gene doesn't work properly, the body can't make this important protein. As a result, the body can't absorb fats and key vitamins, even if the person eats a healthy diet.

This disorder is passed down in an autosomal recessive way. This means that

The condition is extremely rare, and most families do not know they carry the gene until a child shows symptoms. It is more likely in families where parents are closely related, such as cousins.

---

How Do You Get Abetalipoproteinemia?

Abetalipoproteinemia is something you're born with, you do not catch it like an infection or develop it later from diet or lifestyle. It is a genetic condition, which means it happens because of a change (mutation) in your genes.

It is Inherited from Parents

Abetalipoproteinemia is passed down from your parents through a gene called MTTP. This gene helps the body make a special protein needed to move fat and vitamins from your food into your blood.

When both copies of the MTTP gene are not working, your body can't make this protein. As a result, fats and fat-soluble vitamins (A, D, E, and K) stay in the intestines and don't reach the rest of your body.

This happens only if you inherit one faulty gene from each parent. If you get just one faulty gene, you will not get the disease; you will only be a carrier, and you won't have symptoms.

Autosomal Recessive Inheritance Explained Simply

Abetalipoproteinemia follows a pattern called autosomal recessive inheritance. Here's what that means:

Both parents must be carriers of the faulty MTTP gene. When both parents are carriers, each child has a:

This is why the condition is rare, it only occurs if both parents pass down the faulty gene.

It Is Not Caused by Diet or Environment

You cannot get abetalipoproteinemia from eating too much fat, having poor nutrition, or being exposed to something in your environment. It is not caused by anything you do. It is also not contagious, so it cannot be spread to others.

Genetic Testing Can Help Families

Most families do not know they carry the faulty gene until a child shows symptoms. If someone in the family has been diagnosed, other family members may choose to get genetic testing. This can help parents understand their risk in future pregnancies.

If both parents are known carriers, genetic counseling can guide them through testing options and family planning.

---

How is Abetalipoproteinemia Diagnosed?

Diagnosis often starts when a doctor notices poor growth or greasy stools in a young child. To confirm abetalipoproteinemia, several tests are used:

Early diagnosis helps prevent long-term damage by starting treatment as soon as possible.

---

What are the Treatment options for Abetalipoproteinemia?

There is no cure for abetalipoproteinemia, but with the right care, most symptoms can be managed. The goal of treatment is to improve nutrition, protect the nervous system, and support normal growth.

Treatment usually includes

Special Diet

Children with abetalipoproteinemia need a low-fat diet to avoid fat buildup in the intestines. Fats that are easier to digest, like medium-chain triglycerides (MCTs), may be used instead. Babies often need a special formula designed to meet their unique needs.

Vitamin Supplements

High doses of vitamin E are very important. This vitamin helps protect the brain, eyes, and muscles. Other vitamins like A, D, and K are also given to replace what the body cannot absorb. These supplements are usually taken every day for life, and vitamin levels are checked often with blood tests.

Regular Checkups and Therapy

Children will need regular visits to check their growth, vision, nerve health, and strength. If needed, physical therapy can help improve movement and muscle control. The care team may also include a nutritionist and neurologist.

---

When to See a Doctor?

Abetalipoproteinemia usually starts in infancy or early childhood, and symptoms may show up soon after birth or during the first year of life. Parents should see a doctor if their child has:

Early medical care can stop serious problems before they start.

---

Recovery and Outlook

With early treatment, many children with abetalipoproteinemia can live active, healthy lives. Growth may improve, and learning and movement can stay on track. However, without treatment, the condition can lead to vision loss, nerve damage, and even shortened lifespan.

Since it is a lifelong condition, regular care and follow-up are important to keep vitamin levels stable and watch for any new symptoms.

---

Can Abetalipoproteinemia Be Prevented?

This condition cannot be prevented after birth, but genetic counseling can help families who are at risk. If both parents are known carriers of the MTTP gene, they can speak with a genetic specialist to understand their options.

Prenatal testing is also available if the family's specific genetic mutation is known. This helps parents plan and prepare for care if needed.

---

Expert Care for Abetalipoproteinemia

At Medicover Hospitals, we offer expert care for rare conditions like abetalipoproteinemia. Our team of pediatricians, nutritionists, genetic counselors, and specialist doctors work together to provide a full care plan starting from diagnosis to daily management.

We focus on the best care, early support, and family education to help children grow well and stay strong. If your child has symptoms of abetalipoproteinemia or is at risk, our expert team is here to help every step of the way.

---