Essay Sample on Abetalipoproteinemia

Symptoms of abetalipoproteinemia include not being able to absorb vitamins A, D, K,&E due to not having lipoproteins that absorb these vitamins. Additionally, cholesterol levels drop significantly, increasing the risk of heart disease, diarrhea and vomiting are common among infants, and neuropathy may occur when a patient reaches adulthood. Retinal degeneration also typically occurs, and colorblindness often develops in adults. Motor skills may also suffer due to ABL. Tremors are also very common among patients. Red blood cell counts are sometimes lower than normal, and they typically have abnormal burrs protruding from the cell. Kyphosis and Lordosis are typically guaranteed issues, and women may experience infertility. Without treatment, the disorder often severely limits physical movement. Patients may have other complications arise, such as ulcers or heart disease. Patients with abetalipoproteinemia often lose much of their vision, and some patients lose their eyesight altogether. Patients are often fatigued because of the exertion and effort they put forth to simply do normal activities. Because of neuropathy, and lack of use, fine motor skills tend to decline. Victims need medical checkups once a year to make sure that everything is fairly normal. ABL patients often feel fatigued which affects one’s daily life. They also tend to be susceptible to other diseases. Women with abetalipoproteinemia may experience infertility, difficult pregnancies, or issues after birth. Sometimes patients need wheelchairs due to their decreasing physical and motor skills. Limbs tend to weaken with time without proper treatment. Abetalipoproteinemia is caused when the gene responsible for making lipoproteins malfunctions, and lipoproteins are not produced. Due to this the lipoproteins malfunction and the lipoproteins are not produced. Because of this, the gut is unable to absorb vitamins A, E, D,&K. Also, without lipoproteins, red blood cells are deformed, and the count is reduced. Without treatment, the disease may shorten a patient’s life span significantly. However, it is not invariably fatal and is not typically life-threatening. It tends to be more present among people in Germany and Eastern Europe, especially those of Jewish descent.