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Pathway Description
Mevalonic Aciduria
Mus musculus
Disease Pathway
Mevalonic aciduria, also called MVA, is an extremely rare inherited inborn error of metabolism (IEM) and an autosomal recessive disorder caused by a defective mevalonate kinase gene. It is manifested by high levels of mevalonic acid in the urine and other body fluids. Approximately 30 patients with mevalonic aciduria (MVA) have been reported worldwide. MVA is classified as a disorder of branched-chain organic acid metabolism because the substrate for the reaction with mevalonate kinase, HMG-CoA, is a product of leucine catabolism. Mevalonate kinase is an enzyme that plays a critical role in the synthesis of cholesterol, ubiquinone for the electron transport chain, and dolichol for the synthesis of the oligosaccharides for glycoproteins. MVA is also considered a disorder of cholesterol metabolism and isoprenoid biosynthesis. Affected individuals have short stature, psychomotor retardation, progressive cerebellar ataxia, febrile crises, hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rashes. Individuals also exhibit dysmorphic features and progressive visual impairment. Life expectancy with individuals with MVA is relatively short and death may occur from infancy to late childhood. MVA is one of two types of mevalonate kinase deficiency. MVA is the most severe type while the less severe type is called hyperimmunoglobulinemia D syndrome (HIDS).
References
Mevalonic Aciduria References
Haas D, Hoffmann GF: Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 2006 Apr 26;1:13. doi: 10.1186/1750-1172-1-13.
Pubmed: 16722536
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.
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from PW000486
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