Diseases of the Lipid Metabolism

LIPID METABOLISM IN DISEASE

Wolman disease

Wolman disease is a hereditary disease that occurs when a certain type of cholesterol dangliserida accumulate in the tissues.

The disease causes enlargement of the spleen and liver enlargement. Calcium deposits cause the adrenal glands in dalamkelenjar be hard, it could happen steatorrhea (fatty stools).Infants with Wolman disease usually die within 6 months of age.

Cerebrotendinous xanthomatosis

Occurs when cholestanol, the products on cholesterol metabolism, accumulate in tissues. These disorders are not immediately lead to uncoordinated movements, dementia, cataracts, and development of fat (xanthomas) in tendons. Paralysis symptoms often appear after age 30. If started early, chenidol drugs help prevent the progression of the disease, but can not undo any damage that occurs.

Gaucher's disease

In this disease, glucocerebroside, which produces lipid metabolism, accumulate in the tissues. Gaucher disease is a lipidosis serung happen. The disease is most common in Ashkenazi Jews (Eastern European). Pemyakit Gaucher cause an enlarged liver and spleen and brown coloration of the skin.Accumulation of glucocerebroside in the eyes cause yellow spots called pingueculae be seen. Stacking of the cartilage can cause pain and destroy the bone.

Refsum disease

Refsum disease is a rare neurological disorder caused by accumulation of acid and fitanat a compound formed from phytol, which is an element of chlorophyll which is found in vegetable foods.

Sitosterolemia disease

Sitosterolemia In sitosterolemia, fats from fruits and vegetables accumulate in the blood and tissues. The formation of fat causes atherosclerosis, the red blood cell abnormalities, and fat storage in the tendons (xanthomas). Treatment consists of reducing the intake of foods rich in plant fats, such as vegetable oils, and the use of cholestyramine resin.

Tay-Sachs disease

Tay-Sachs disease Tay-sach On, ganglioside, which results in fat metabolism, accumulate in tissues. The disease is most common in Eastern European Jewish original. At a very early age, children with this disease is becoming increasingly slow and seems to have a floppy muscle tone. Form seizures followed by paralysis, dementia, and blindness. These children usually die by age 3 or 4 years. Tay-Sachs disease can be identified in the fetus by chorionic villus or amniocentesis samples. The disease can not be treated or cured.

Niemann-Pick disease

In Niemann-Pick disease Niemann-Pick, specific enzyme deficiency resulting in accumulation of sphingomyelin (products of fat metabolism) or cholesterol. Niemann-Pick disease possessed several forms, depending on the severity of the reduced enzyme and thus the accumulation of sphingomyelin or cholesterol. The most severe forms tend to occur in Jews. Milder form occurs in all ethnic groups. In the severe form is often the case (type A), the child fails to grow properly and have multiple neurologic problems. These children usually die by age 3 years. Children with type B disease is growing fat on the skin, dark pigmented area, and an enlarged liver, spleen, and spleen stem; they may be mentally slow. Children with type C disease symptoms in childhood, with attacks and nerve damage. Some forms of Niemann-Pick disease can be diagnosed in the fetus with chrionic villus or amniocentesis samples. After birth, the diagnosis can be made by liver biopsy (removal of a sample of tissue for examination under a microscope). None of these types of Niemann-Pick disease can be cured, and children tend to die from infection or progressive disorder of the central nervous system.

Fabry disease

In Fabry Fabry disease, glycolipid, which is the result of fat metabolism, accumulate in tissues. Because the gene is not perfect for this rare disorder brought on the X chromosome, a full-blown disease occurs only in men. Glycolipid buildup in the skin that causes the growth of noncancerous (angiokeratomas) to form along the bottom of the body. The cornea becomes cloudy, resulting in poor vision. Burning may occur on the arms and legs, and the person may experience fever events. People with Fabry disease soon developed renal failure and heart disease, although they often live into adulthood. Kidney failure can cause high blood pressure, which can lead to stroke. Fabry disease can be diagnosed in the fetus by chorionic villus or amniocentesis samples. Fabry disease can not be cured or even treated lsngsung, but researchers are investigating a treatment in which the enzyme deficiency was replaced by transfusion. Treatment consists of use of analgesic to help relieve pain and fever, those with renal impairment may require a kidney transplant