Loading Pathway...
Error: Pathway image not found.
Hide
Pathway Description
Lysosomal Acid Lipase Deficiency (Wolman Disease)
Homo sapiens
Disease Pathway
Lysosomal Acid Lipase Deficiency, also known as Wolman disease, is predictably enough the result of a specific defect in lysosomal acid lipase. The defect results from a mutation on the 10th chromosome to the LIPA gene. Of interest is that the nature of the particular defect to the LIPA gene can result in two major, and distinct disorders. The first and more severe is the infantile-onset Wolman disease, whereas the other less severe disorder is late-onset cholesteryl ester storage diseas, also known as CESD. These two disorders are the product of mutations to different regions of the LIPA gene. Wolman disease is characterized by increased transaminases in serum, and increased cholesteryl esters and triglycerides in various tissues. Symptoms include anemia, diarrhea, failure to thrive, enlarged liver, malabsorption, steatorrhea and abdominal pain.
References
Lysosomal Acid Lipase Deficiency (Wolman Disease) References
[Uniprot: P38571](http://www.uniprot.org/uniprot/P38571)
[OMIM: Entry 278000](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278000)
Anderson RA, Byrum RS, Coates PM, Sando GN: Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. Proc Natl Acad Sci U S A. 1994 Mar 29;91(7):2718-22.
Pubmed: 8146180
Aslanidis C, Klima H, Lackner KJ, Schmitz G: Genomic organization of the human lysosomal acid lipase gene (LIPA). Genomics. 1994 Mar 15;20(2):329-31. doi: 10.1006/geno.1994.1180.
Pubmed: 8020990
Byrd JC 3rd, Powers JM: Wolman's disease: ultrastructural evidence of lipid accumulation in central and peripheral nervous systems. Acta Neuropathol. 1979 Jan 12;45(1):37-42.
Pubmed: 216225
Fujiyama J, Sakuraba H, Kuriyama M, Fujita T, Nagata K, Nakagawa H, Osame M: A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease. Hum Mutat. 1996;8(4):377-80. doi: 10.1002/(SICI)1098-1004(1996)8:4<377::AID-HUMU15>3.0.CO;2-#.
Pubmed: 8956047
Desai NK, Wilson DP: Lysosomal Acid Lipase Deficiency
Pubmed: 27809430
Steroid Biosynthesis References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Norman, A.W, and Litwack, G. Hormones (2nd ed.) (1997) San Diego : Academic Press.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Vance, D.E., and Vance, J.E. Biochemistry of lipids, lipoproteins, and membranes (4th ed.) (2002) Amsterdam; Boston: Elsevier.
Simons J: The $10 billion pill. Fortune. 2003 Jan 20;147(1):58-62, 66, 68.
Pubmed: 12602122
Highlighted elements will appear in red.
Highlight Compounds
Highlight Proteins
Enter relative concentration values (without units). Elements will be highlighted in a color gradient where red = lowest concentration and green = highest concentration. For the best results, view the pathway in Black and White.
Visualize Compound Data
Visualize Protein Data
Downloads
Settings