Wolman disease is amongst the seldom diseases and is an inherited physical condition that is associated with breakdown as well as use of fats as well as cholesterol in lipid metabolism. This condition is also referred to as ‘Wolman’s Disease’ or ‘Lysosomal acid lipase deficiency’.
The chief reason of the affliction is deficiency of Lysosomal Acid Lipase which is abbreviated as LAL or LIPA. This enzyme is known to be effective in breaking down certain kinds of lipid in the cell. Individuals who are affected by Wolman’s Disease carry excessive amount of lipids in the body which mainly accumulates within the liver, gut, spleen, bone marrow, adrenal gland, small intestines and lymph nodes. The affected individual may also have accumulated calcium in adrenal gland.
Initially during birth the infant with Wolman disease is usually health as well as active. However, it is not too late when they develop symptoms of the disease that may include:
• Improper muscle tone
• Poor weight
• Reduced growth rate
• Engorged spleen as well s liver
• Deficiency of iron in blood
• Inappropriate absorption of required nutrients in through food
• Paled skin
• Yellow tint to eyes
It should be known that symptoms of Wolman’s disease may appear as early as after seven days from the time of birth. Unfortunately, most children with inherited Wolman disease may not even live passed childhood. It is determined as a rare disease as it is recorded in only 1 case out of 350,000 births.
Causes of Wolman Disease
The chief reason causing Wolman’s disease is known to be mutation of a gene known as lysosomal acid which is also sometimes referred to as Lipase A or LIPA. As mentioned above, this enzyme is crucial for breaking down lipids. This enzymes breaks down fats like cholesteryl ester as well as triglycerides making them useful for a person’s body. Lysosomes are said to be intracellular substance that helps by digesting and recycling the substances. Medical industry has determined dissimilar mutations that may cause defective activities of enzymes.
It is determined that deficiency of Lipase A may lead to deposition of cholesteryl esters and other kinds of fats in the affected individual’s respective cells. This may also cause hindrance to the absorption ability of nutrients through food in the body. Both hindered absorption as well as deficiency of Lipase A may lead to symptoms associated with Wolman’s Disease. Mutations of LIPA may also cause Cholesteryl Ester storage disease; this disease may be diagnosed in later stages of life. However, this condition is known to be less hazardous as compared to Wolman Disease.
Treatments for Wolman Disease:
There are some lipid storage disorders that can be treated, but Wolman disease is not easily treatable. Unfortunately this disease is also said to be fatal during early years of life; this is perhaps because most children afflicted with the disease die during these early years. There is no cure discovered in medical industry neither there is any certain treatment techniques that may reverse the influence of mutation of associated gene. However, only available treatments, focuses on managing the experienced symptoms of Wolman disease and nothing much can be done about it.
Other helpful treatment suggested incase of Wolman disease includes bone marrow transplant and intravenous nutritional supplement supply. These treatments are believed to be little more helpful than other few available treatments for Wolman disease.
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