Lipids are a form of fat that serves as an important structural component of the body's cell walls. Lipids are also stored in tissues and are broken down when the body can no longer utilize glucose. An example of this occurrence is when one suffers from uncontrolled diabetes. According to the National Institute of Neurological Disorders and Stroke, these lipids can build up in cells and tissues and lead to various diseases.
Niemann-Pick Disease
According to the Mayo Clinic, Niemann-Pick disease is a condition in which lipids accumulate in your cells. It specifically targets such organs as your brain, spleen, liver, bone marrow and lungs. Although it is typically a childhood disease, Niemann-Pick disease can also affect adults. The National Institute of Neurological Diseases and Stroke (NINDS) cites four types of Niemann-Pick Disease. Type A is the most common form that affects infants. Its manifestations include yellowing of the skin, an enlarged liver and brain damage. Infants suffering from Type A Neimann-Pick's disease usually do not live beyond 18 months. Type B occurs in the pre-adolescent years. Here, the patient develops an enlarged liver (hepatomegaly) and spleen (splenomegaly). Type C and D can affect infants, teens and adults. It primarily causes extensive brain damage. The NINDS notes that there is currently no treatment for the Type A form. Bone marrow transplants or gene and enzyme replacement therapy may be of benefit if one suffers from Type B. A low-cholesterol diet may be beneficial for those who suffer from Types C and D.
Tay-Sach's Disease
Tay-Sach's disease is a lipid disorder in which a specific fat called ganglioside GM2 accumulates in brain tissues and nerve cells. According to the NINDS, this occurs because the body lacks beta-hexosaminidase, an enzyme responsible for breaking down gangliosides. Tay's Sach's disease strikes young children. Manifestations include trouble swallowing, blindness and deafness. It can also cause muscle atrophy, paralysis, seizures and the ability to be easily startled. Tay-Sach's disease typically affects Ashkenazi and Eastern European people of Jewish descent. Unfortunately, there is no treatment for Tay-Sach's disease, but a doctor may give a child anticonvulsant medications to control seizures. Also, a child may need a feeding tube, so that she can receive proper nutrition. Children suffering from Tay-Sach's disease can live to 4 years old.
Gaucher Disease
The Mayo Clinic says that Gaucher's disease occurs when excessive amounts of lipids reside in the liver, bone marrow, spleen and lungs. Gaucher disease is characterized by a lack of the glucocerebrosidase enzyme, which is needed to metabolize glucocerebroside. There are three types of Gaucher's disease. Type 1 involves bone pain or fractures, anemia, fatigue, nosebleeds and delayed puberty. Type 2 involves seizures and stiffness of the joints and muscles. Type 3 involves lack of muscle coordination, strange eye movements and mental retardation. Enzyme replacement therapy, bone marrow transplantation and medications such as miglustat can help treat Gaucher's disease.
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