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Pathway Description
Argininosuccinic Aciduria
Homo sapiens
Disease Pathway
Argininosuccinic Aciduria, (Argininosuccinase Deficiency, Argininosuccinate Lyase Deficiency, ASL Deficiency) is an autosomal recessive disorder caused by a mutation in the ASL gene which codes for argininosuccinate lyase. It results in accumulation of citrulline, arginosuccinic acid, L-arginine, and L-glutamic acid in plasma as well as ammonia in blood. Infants are lethargic and unwilling to eat. They may develop seizures, coma, and failure to thrive as toxic ammonia accumulates.
References
Argininosuccinic Aciduria References
[OMIM: Entry 207900](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=207900)
[Uniprot: P04424](http://www.uniprot.org/uniprot/P04424)
[Wikipedia: Argininosuccinic aciduria](http://en.wikipedia.org/wiki/Argininosuccinic_aciduria)
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.327 Heilbronn: SPS Verlagsgesellschaft
Kleijer WJ, Garritsen VH, Linnebank M, Mooyer P, Huijmans JG, Mustonen A, Simola KO, Arslan-Kirchner M, Battini R, Briones P, Cardo E, Mandel H, Tschiedel E, Wanders RJ, Koch HG: Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. J Inherit Metab Dis. 2002 Sep;25(5):399-410.
Pubmed: 12408190
Levin B: Arginosuccine aciduria. Am J Dis Child. 1967 Jan;113(1):162-5.
Pubmed: 6015896
Linnebank M, Tschiedel E, Haberle J, Linnebank A, Willenbring H, Kleijer WJ, Koch HG: Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. Hum Genet. 2002 Oct;111(4-5):350-9. doi: 10.1007/s00439-002-0793-4. Epub 2002 Aug 14.
Pubmed: 12384776
Erez A: Argininosuccinic aciduria: from a monogenic to a complex disorder. Genet Med. 2013 Apr;15(4):251-7. doi: 10.1038/gim.2012.166. Epub 2013 Jan 10.
Pubmed: 23306800
Reid Sutton V, Pan Y, Davis EC, Craigen WJ: A mouse model of argininosuccinic aciduria: biochemical characterization. Mol Genet Metab. 2003 Jan;78(1):11-6.
Pubmed: 12559843
Urea 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.
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