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Pathway Description
Canavan Disease
Homo sapiens
Disease Pathway
Canavan Disease (Canavan-Van Bogaert-Bertrand Disease; Aminoacylase 2 Deficiency; Spongy Degeneration of the Central Nervous System; Aspartoacylase Deficiency; ASP Deficiency; ACY2 Deficiency; ASPA) is a rare autosomal recessive disease caused by a defect in the ASPA gene which codes for aspartoacylase. A deficiency in this enzyme results in accumulation of N-Acetyl-L-aspartic acid in plasma, spinal fluid, and urine. Symptoms, which present at birth, include myclonus, irritability, hypotonia, motor retardation, and poor head control. The neurological complications are due to demyelination of neurons and leukodystrophy. Premature death often results, though lithium citrate can be used as a treatment.
References
Canavan Disease References
[Uniprot: P45381](http://www.uniprot.org/uniprot/P45381)
[OMIM: Entry 271900](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271900)
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.30 Heilbronn: SPS Verlagsgesellschaft
Matalon R, Kaul R, Casanova J, Michals K, Johnson A, Rapin I, Gashkoff P, Deanching M: SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease. J Inherit Metab Dis. 1989;12 Suppl 2:329-31.
Pubmed: 2512436
Shaag A, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.: The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients. Am J Hum Genet. 1995 Sep;57(3):572-80.
Pubmed: 7668285
Velinov M, Zellers N, Styles J, Wisniewski K: Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease. Clin Genet. 2008 Mar;73(3):288-9. doi: 10.1111/j.1399-0004.2007.00934.x. Epub 2007 Dec 6.
Pubmed: 18070137
Kaul R, Gao GP, Aloya M, Balamurugan K, Petrosky A, Michals K, Matalon R: Canavan disease: mutations among Jewish and non-Jewish patients. Am J Hum Genet. 1994 Jul;55(1):34-41.
Pubmed: 8023850
Bokhari MR, Bokhari SRA: Canavan Disease
Pubmed: 28613566
Matalon R, Rady PL, Platt KA, Skinner HB, Quast MJ, Campbell GA, Matalon K, Ceci JD, Tyring SK, Nehls M, Surendran S, Wei J, Ezell EL, Szucs S: Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system. J Gene Med. 2000 May-Jun;2(3):165-75. doi: 10.1002/(SICI)1521-2254(200005/06)2:3<165::AID-JGM107>3.0.CO;2-R.
Pubmed: 10894262
Aspartate Metabolism 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.
Birsoy K, Wang T, Chen WW, Freinkman E, Abu-Remaileh M, Sabatini DM: An Essential Role of the Mitochondrial Electron Transport Chain in Cell Proliferation Is to Enable Aspartate Synthesis. Cell. 2015 Jul 30;162(3):540-51. doi: 10.1016/j.cell.2015.07.016.
Pubmed: 26232224
Lane AN, Fan TW: Regulation of mammalian nucleotide metabolism and biosynthesis. Nucleic Acids Res. 2015 Feb 27;43(4):2466-85. doi: 10.1093/nar/gkv047. Epub 2015 Jan 27.
Pubmed: 25628363
Toney MD: Aspartate aminotransferase: an old dog teaches new tricks. Arch Biochem Biophys. 2014 Feb 15;544:119-27. doi: 10.1016/j.abb.2013.10.002. Epub 2013 Oct 9.
Pubmed: 24121043
Fan TW, Tan J, McKinney MM, Lane AN: Stable Isotope Resolved Metabolomics Analysis of Ribonucleotide and RNA Metabolism in Human Lung Cancer Cells. Metabolomics. 2012 Jun;8(3):517-527. doi: 10.1007/s11306-011-0337-9.
Pubmed: 26146495
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