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Pathway Description
Fumarase Deficiency
Homo sapiens
Disease Pathway
Fumarase deficiency, also called fumaric aciduria, is a rare inborn error of metabolism (IEM) and autosomal recessive metabolic disorder caused by a defective mitochondrial fumarate hydratase. Fumarate hydratase catalyzes the conversion of fumaric acid into L-Malic acid or other way around. This disorder is characterized by a large accumulation of fumaric acid in the mitochondrial. Symptoms of the disorder include microcephaly (i.e. small head), severe developmental delay, hypotonia (i.e. weak muscle), and etc. Treatment with oral malic acid is very effective since malic acid can keep the Krebs cycle to function. Fumarase deficiency has been reported in approximately 100 people.
References
Fumarase Deficiency References
[Metagen: FUMARASE DEFICIENCY](http://metagene.de/program/d.prg?id_d=31)
[OMIM: 606812](http://omim.org/entry/606812})
Gellera C, Uziel G, Rimoldi M, Zeviani M, Laverda A, Carrara F, DiDonato S: Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. Neurology. 1990 Mar;40(3 Pt 1):495-9.
Pubmed: 2314594
Citric Acid Cycle References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Krebs HA, Johnson WA: Metabolism of ketonic acids in animal tissues. Biochem J. 1937 Apr;31(4):645-60. doi: 10.1042/bj0310645.
Pubmed: 16746382
Johnson JD, Mehus JG, Tews K, Milavetz BI, Lambeth DO: Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes. J Biol Chem. 1998 Oct 16;273(42):27580-6. doi: 10.1074/jbc.273.42.27580.
Pubmed: 9765291
Mullins EA, Francois JA, Kappock TJ: A specialized citric acid cycle requiring succinyl-coenzyme A (CoA):acetate CoA-transferase (AarC) confers acetic acid resistance on the acidophile Acetobacter aceti. J Bacteriol. 2008 Jul;190(14):4933-40. doi: 10.1128/JB.00405-08. Epub 2008 May 23.
Pubmed: 18502856
Corthesy-Theulaz IE, Bergonzelli GE, Henry H, Bachmann D, Schorderet DF, Blum AL, Ornston LN: Cloning and characterization of Helicobacter pylori succinyl CoA:acetoacetate CoA-transferase, a novel prokaryotic member of the CoA-transferase family. J Biol Chem. 1997 Oct 10;272(41):25659-67. doi: 10.1074/jbc.272.41.25659.
Pubmed: 9325289
Denton RM, Randle PJ, Bridges BJ, Cooper RH, Kerbey AL, Pask HT, Severson DL, Stansbie D, Whitehouse S: Regulation of mammalian pyruvate dehydrogenase. Mol Cell Biochem. 1975 Oct 31;9(1):27-53.
Pubmed: 171557
Bricker DK, Taylor EB, Schell JC, Orsak T, Boutron A, Chen YC, Cox JE, Cardon CM, Van Vranken JG, Dephoure N, Redin C, Boudina S, Gygi SP, Brivet M, Thummel CS, Rutter J: A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans. Science. 2012 Jul 6;337(6090):96-100. doi: 10.1126/science.1218099. Epub 2012 May 24.
Pubmed: 22628558
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