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Abetalipoproteinemia

They are some instances when the body is not able to function properly. When this happens a number of disorders can occur. It is always important to report any changes in your or your child’s health to your doctor.

Abetalipoproteinemia is also referred to as Bassen-Kornzweig syndrome, or Apolipoprotein B deficiency. It is a rare genetic disease that affects how fats are produced and used in the body. A normal healthy body needs fats for healthy nerves, muscles, and digestion. Fats attach to special proteins called lipoproteins to travel throughout the body. Individuals with this disorder don’t produce a special protein for creating lipoproteins, without these fats can’t be digested properly, which leads to serious health issues.

Who can get it?

Abetalipoproteinemia is prevalent in infants. It seems to affect more boys than girls. Since it is an inherited but autosomal recessive, but parents have to carry the gene for the child to develop it.

What causes it?

Abetalipoproteinemia is an inherited disorder. Both parents have to carry the gene for the child to get it.

How does it happen?

When the body is not able to make lipoproteins, then they are unable to properly digest fat. The disorder leads to multiple vitamin deficiencies, affecting the fat soluble Vitamin A, Vitamin D, Vitamin E, and Vitamin K.

What are the symptoms?

The symptoms of Abetalipoproteinemia are easy to recognize. Babies born with the illness will have stomach problems; they will have abnormal stools which are pale in color and foul smelling. They will also experience heavy vomiting, diarrhea, bloated stomachs, and not grow properly. Since the body is having problems with fats; during the child’s early years, problems caused by the lack of fats and fat soluble vitamins show the following symptoms. Problems with sensing temperature and touch, especially in the extremities, trouble walking or standing up, movement disorders (such as tremors, shaving, trouble talking), muscle problems (weakness, and the contracting of muscles), blood problems (anemia, problems with clotting) and eye problems (night blindness, poor eyesight, cataracts). These symptoms will get progressive worse as the child continues to grow.

How can it be diagnosed?

A doctor will be able to diagnosis Abetalipoproteinemia by the stomach problems the child has. The stool will be tested to show its fat content. Blood tests will be done to check for abnormal red blood cells. An eye exam will also be conducted to look for any indication of inflammation and the retinal degeneration of the eyes. They will be tests to check the child’s muscle strength also. Genetic testing may also be conducted to determine if this illness is possible. Nerve conduction velocity testing may also be done to show the progression of the peripheral nerves.

What treatments are available?

A doctor will provide dietary requirements for the individual inflicted. The person will have to avoid eating long-chain triglycerides in favor of medium-chain triglycerides. Large doses of Vitamin supplements containing Vitamins A, E, and K, as well as iron. A diet should contain no more than five ounces of lean meat, fish or poultry per day, and skim milk should be used instead of whole milk. We need a certain amount of fat in our diet to have normal growth and development. Medium chain triglycerides are an alternative used as a major source of fat in the diet. These are absorbed differently in our system than other fats, thus avoiding the intestinal symptoms that the individual has been experiencing. Without proper treatment the individual could face complications such as blindness, mental deterioration, and loss of function of the nerves, and walking ability.

Abetalipoproteinemia is an illness that is inherited, which means the earlier that the individual is diagnosed with the disease the faster treatment can be started. The outcome for the individual depends on the degree and progression of the problems. Some forms of the disease can lead to irreversible damage. Researchers are currently working on identifying the gene that is involved with this illness. They are hoping that in doing so, in the future they can identify those individuals carrying the defective gene and maybe be able to correct the defect and prevent this disorder from being passed down from generation to generation.

Hope this article will provide you information about abetalipoproteinemia.

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