What is abetaliPoproteinemia?

people who inherited abetaliPoproteinemia have noticeable symptoms when they are only a few months. Symptoms may include inability to receive weight; diarrhea; oily, foaming, organizing stool; bloated belly; and strangely shaped red blood cells. As these individuals age, there may be problems with their nervous system, muscle coordination, carefree speech, spine curvature, poor vision and movement and balance problems. Many symptoms abetaliPoproteinemia are the result of lack of absorption of vitamins, especially vitaminE.

There are very few reported cases of abetalipoproteinemia. It is an autosomal recessive genetic disorder where mutations affect the gene of microsomal transmission protein (MTTP) microsomal triglyceride. This means that the person affected by abetaliPoproteinemia has parents, each with one copy of the mutated MTTP gene. So parents have no symptoms that they are bearers of disorders, but children do.

There are some tests that can help determine whether an individual has abetaliProteinemia. Lipid levels will determine the blood test Apolipoprotein B. In addition, other blood tests can check if there are any deficiencies of fat -soluble vitamin. The stool sample, cholesterol test and eye test can also be performed. The treatment involves the use of vitamin and folk acid of Nolecka acid and limited intake of fat and triglycerides with long chain.

may be to the displayOziči genetic testing abetaliPoproteinemia, so prevention of deterioration is possible. In these cases, high amounts of fat -soluble vitamins may reduce progression, especially in visual problems. In addition, when supplements are received, the prognosis is good. In their most serious form, however, some affected individuals may suffer from irreversible damage to the nervous system before they reach the age of 30. Complications may include blindness, nerve damage and worsening of the individual's mental ability.

Although it is rare, they grow by a disorder. The ABETALIPOPROTEINEMIA Foundation began in January 2007. Its aim is to link and set up an international support group for those who were affected by abetaliProteinemia, their families, doctors and scientists.