Wolman Disease

Wolman Disease

Causes and Symptoms

LIPA Gene

Treatment

• Normal Function: The lysosomal acid lipase enzyme is found in the lysosomes of every cell and allows the digestion and breakdown of cholesterol esters. This enables the body to seperate the cholesterol from lipids for consumption (fats).
• Wolman disease: the inherited mutation causes the body to produce shortened versions of Lysosomal Acid lipase a. The altertered enzyme is rendered useless and can no longer properly digest cholesterol esters.

• Genetic counseling is available and highly recommended for carriers of the disease.
• hematopoietic stem cell transplantation and bone marrow replacement (risks: long term effects unknown and graft vs. Host disease).
• Undergoing research
• Synthetic enzymes
• Recombinant Lal enzyme replacement

Symptoms

• difficulty gaining weight
• yellow tint to skin and eyes
• Large Spleen and liver
• Malnutrition
• Diarrhea
• Vomiting

Description

Additional Info

: It is an inherited metabolic disorder affecting the lipid metabolism of an individual, causing fats to accumulate in the liver, bone marrow, kidney, and small intestine. The afflicted often suffer from malnutrition because the fats extracted from their food intake are not digested and therefore suffer from their absence. An individual is often born with seemingly healthy appearance and no alarming symptoms. As the months progress, the infant experiences rapid weight loss, enlarged spleen, and malnutrition. The individual often dies within the first 3 months of life.

Additional Facts

Wolman Disease is a dominant trait and affects individuals who are either heterozygous or homozygous for the mutation. The Lipa Gene mutation on affects a small portion of infants, approximately 1 in 350,000 newborns, but drastically increases in individuals of Persian and Bukharan Jewish Descent.

Bibliography

• Hamosh, Ada, Cassandra L. Kniffin, Anne M. Stumpf, George E. Tiller, and Victor S. McKusick. "Lysosomal Acid Lipase Deficiency." Entry #278000. Online Mendelian Inheritance in Man, 7 July 2016. Web. 4 Dec. 2016. <http://www.omim.org/entry/278000>.
• "Wolman Disease - Genetics Home Reference." U.S. National Library of Medicine. National Institutes of Health, Oct 2007. Web. 04 Dec. 2016. <https://ghr.nlm.nih.gov/condition/wolman-disease>.
• "LIPA Gene." U.S. National Library of Medicine. National Institutes of Health, Oct. 2007. Web. 04 Dec. 2016. <https://ghr.nlm.nih.gov/gene/LIPA>.
• JGDC Staff. "Wolman Disease." Wolman Disease - Jewish Genetic Disease Consortium. JGDC, n.d. Web. 04 Dec. 2016. <http://www.jewishgeneticdiseases.org/diseases/wolman-disease/>.
• "Wolman Disease - NORD." NORD (National Organization for Rare Disorders). NIH Clinical Center, 2015. Web. 04 Dec. 2016. <https://rarediseases.org/rare-diseases/wolman-disease/>.
• "LIPA Gene (protein Coding)." Genecards.org. Gene Cards- Human Gene Database, 2006. Web. 04 Dec. 2016. <http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPA>.

Related diseases

cholesteryl ester storage disease

This disease is similar to Wolman disease and is in fact located on the same chromosome and mutation spot. Although the there is a difference in symptoms and affected people. The patients affected typically live into adulthood and experience differences in digestion only later in life. The severity of the disease is also significantly less than Wolman disease as well.