This is a medical disorder that affects how fats are made and used in your body. It is a rare inherited disorder. It is also known as Bassen-Kornzweig syndrome<\/em>. Your body needs fats for healthy muscles, digestion, and nerves.<\/p>\n Just like water and oil, these fats cannot travel in your blood around your body by themselves because they just do not mix in. Instead they have to attach themselves to special protein cells called lipoproteins in order to go where they are needed in your body via your blood.<\/p>\n When someone has abetalipoproteinemia it is apparent in infancy. It affects boys more than girls. The average percentage of boys to girls is seventy percent to thirty percent.<\/p>\n Although it is an inherited disorder it is also autosomal recessive, which means that both of the parents have to have this faulty gene in order to pass it down to the children. Sometimes the parents do not have any symptoms because they are carriers of the mutated MTTP gene. There are approximately one hundred cases of abetalipoproteinemia worldwide.<\/p>\n Babies that are born with abetalipoproteinemia have problems with their stomach because their body cannot digest fats properly. Their stools are also abnormal with them being foul-smelling and pale colored. They can also have diarrhea, bloated bellies, and vomiting.<\/p>\n The baby does not grow or gain weight like a normal baby would. Because their body has problems with digesting fats there are also problems with the vitamins that store the fat, which are called fat-soluble vitamins. These vitamins include vitamins E, K, and A.<\/p>\n During their first ten years the problems that are caused by the lack of fat-soluble vitamins and fats start to show.<\/p>\n Some of the problems they might show include:<\/p>\n Many of these problems are from the lack of absorption of vitamins, especially vitamin E.<\/p>\n When a person has abetalipoproteinemia they do not produce the critical \u201cbuilding block\u201d or special protein that is used to make lipoproteins. If you do not produce enough of these lipoproteins the fats cannot be digested properly nor can they travel around your body to where they are needed. This can lead to serious health problems.<\/p>\n Of course the first clue that the baby has abetalipoproteinemia is the problems they are having with their stomach. The physician will test their stool, which will show a high level of fat.Symptoms of Abetalipoproteinemia<\/h2>\n
Problems Caused by Abetalipoproteinemia<\/h2>\n
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Causes of Abetalipoproteinemia<\/h2>\n
How is Diagnosis made?<\/h2>\n
\nThis means that instead of the fat being used by their body it is being eliminated in their stool. The physician will also have blood tests done to see if there are any abnormal red blood cells, which can be seen under the microscope.<\/p>\n