Analysis of the Molecular Basis of Wolman Disease Wolman disease is an autosomal recessive condition that is characterized as the complete deficiency of the lysosomal enzyme, lysosomal acid lipase (LAL).1 LAL is responsible for hydrolyzing triglycerides and cholesterol esters in the body that have been internalized via receptor mediated endocytosis.2,3 Therefore this enzyme functions inside the lysosome to carry out hydrolysis of lipids. Wolman disease is contracted by an estimated 1 out of 350,000 newborn infants and can be extremely fatal.4 However, Wolman disease can affect all individuals, but it is more rare for adults to develop the disease. People affected from Wolman disease develop lipid accumulations all throughout the body in areas
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Symptoms from this deficiency include “enlarged liver and spleen (hepatosplenomegaly), poor weight gain, low muscle tone, a yellow tint to the skin and the whites of the eyes (jaundice), vomiting, diarrhea, developmental delay, low amounts of iron in the blood (anemia), and poor absorption of nutrients from food.”4 Kuriwaki et. al. has reported that infants with Wolman disease gained 280 g in the first in week after birth, but they only gained 60 g in the next four weeks. The impact of Wolman disease on newborn infants is detrimental to their immediate health and most infants die within the first couple months after birth, therefore making Wolman disease a very deadly …show more content…
To address the failure of adrenal glands, adrenal hormones can be manually injected into the bloodstream. Enlarged spleens can be surgically removed. Implementation of low fat diets can be used to alleviate high lipid concentrations in the body. In a study conducted by Kyriakides et al., patients that were given a skim milk diet contained low amounts of linoleic acid in various tissues; whereas, patients that were given a soybean formula diet had substantial amounts of linoleic acid in their tissues. Blood transfusions can be conducted if anemia develops. Investigational therapies can been tried to look for possible treatments for Wolman disease. Research with hematopoietic stem cell transplantation has been observed. Blood stem cells were grown into red blood cells, white blood cells, and platelets to replace bone marrow. Individuals with Wolman disease treated with stem cell transplantation have a lower frequency of liver failure and reduced symptoms. There are some drawbacks to this treatment; blood transplants are expensive, and there is a possibility that the host body will reject the treatment causing even more complications.7 Another possible treatment is making synthetic LAL proteins to fulfill the task of degrading cholesteryl esters. Other lysosomal diseases have been treated with synthetic proteins, and this treatment has been proven successful
Symptoms from this deficiency include “enlarged liver and spleen (hepatosplenomegaly), poor weight gain, low muscle tone, a yellow tint to the skin and the whites of the eyes (jaundice), vomiting, diarrhea, developmental delay, low amounts of iron in the blood (anemia), and poor absorption of nutrients from food.”4 Kuriwaki et. al. has reported that infants with Wolman disease gained 280 g in the first in week after birth, but they only gained 60 g in the next four weeks. The impact of Wolman disease on newborn infants is detrimental to their immediate health and most infants die within the first couple months after birth, therefore making Wolman disease a very deadly …show more content…
To address the failure of adrenal glands, adrenal hormones can be manually injected into the bloodstream. Enlarged spleens can be surgically removed. Implementation of low fat diets can be used to alleviate high lipid concentrations in the body. In a study conducted by Kyriakides et al., patients that were given a skim milk diet contained low amounts of linoleic acid in various tissues; whereas, patients that were given a soybean formula diet had substantial amounts of linoleic acid in their tissues. Blood transfusions can be conducted if anemia develops. Investigational therapies can been tried to look for possible treatments for Wolman disease. Research with hematopoietic stem cell transplantation has been observed. Blood stem cells were grown into red blood cells, white blood cells, and platelets to replace bone marrow. Individuals with Wolman disease treated with stem cell transplantation have a lower frequency of liver failure and reduced symptoms. There are some drawbacks to this treatment; blood transplants are expensive, and there is a possibility that the host body will reject the treatment causing even more complications.7 Another possible treatment is making synthetic LAL proteins to fulfill the task of degrading cholesteryl esters. Other lysosomal diseases have been treated with synthetic proteins, and this treatment has been proven successful