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Pathway Description
Hypoacetylaspartia
Homo sapiens
Disease Pathway
Hypoacetylaspartia, also known as N-acetylaspartate (NAA) deficiency is an extremely rare autosomal recessive inborn error of metabolism (IEM) caused by a mutation in the NAT8L gene. This gene encodes the N-acetylaspartate synthase protein, which catalyzes the formation of N-acetyl-L-aspartate from L-aspartate and acetyl-CoA, with CoA and a hydrogen ion being byproducts. This reaction occurs as part of the aspartate metabolism pathway. This disorder is characterized by a deficiency of NAA in the brain, as shown by magnetic resonance spectroscopy (MRS). Symptoms of the disorder include microcephaly, developmental delays, ataxia and seizures, which have been shown to worsen the ataxia. So, only one patient has been diagnosed with Hypoacetylaspartia.
References
Hypoacetylaspartia References
Wiame E, Tyteca D, Pierrot N, Collard F, Amyere M, Noel G, Desmedt J, Nassogne MC, Vikkula M, Octave JN, Vincent MF, Courtoy PJ, Boltshauser E, van Schaftingen E: Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia. Biochem J. 2009 Dec 14;425(1):127-36. doi: 10.1042/BJ20091024.
Pubmed: 19807691
Burlina AP, Schmitt B, Engelke U, Wevers RA, Burlina AB, Boltshauser E: Hypoacetylaspartia: clinical and biochemical follow-up of a patient. Adv Exp Med Biol. 2006;576:283-7; discussion 361-3. doi: 10.1007/0-387-30172-0_20.
Pubmed: 16802720
Boltshauser E, Schmitt B, Wevers RA, Engelke U, Burlina AB, Burlina AP: Follow-up of a child with hypoacetylaspartia. Neuropediatrics. 2004 Aug;35(4):255-8. doi: 10.1055/s-2004-821036.
Pubmed: 15328569
Martin E, Capone A, Schneider J, Hennig J, Thiel T: Absence of N-acetylaspartate in the human brain: impact on neurospectroscopy? Ann Neurol. 2001 Apr;49(4):518-21.
Pubmed: 11310630
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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