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Yang, C. Argininosuccinic Aciduria. Encyclopedia. Available online: https://encyclopedia.pub/entry/4765 (accessed on 28 September 2026).
Yang C. Argininosuccinic Aciduria. Encyclopedia. Available at: https://encyclopedia.pub/entry/4765. Accessed September 28, 2026.
Yang, Catherine. "Argininosuccinic Aciduria" Encyclopedia, https://encyclopedia.pub/entry/4765 (accessed September 28, 2026).
Yang, C. (2020, December 24). Argininosuccinic Aciduria. In Encyclopedia. https://encyclopedia.pub/entry/4765
Yang, Catherine. "Argininosuccinic Aciduria." Encyclopedia. Web. 24 December, 2020.
Argininosuccinic Aciduria
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria

Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

genetic conditions

References

  1. Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML. UreaCycle Disorders Overview. 2003 Apr 29 [updated 2017 Jun 22]. In: Adam MP,Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1217/
  2. 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 geneticcharacterization 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.
  3. Lee B, Goss J. Long-term correction of urea cycle disorders. J Pediatr. 2001Jan;138(1 Suppl):S62-71. Review.
  4. Nagamani SCS, Erez A, Lee B. Argininosuccinate Lyase Deficiency. 2011 Feb 3[updated 2019 Mar 28]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK51784/
  5. National Organization for Rare Disorders (NORD)
  6. National Urea Cycle Disorders Foundation
  7. 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.
  8. Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jahoor F, O'Brien W, Lee B. Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. J Nutr. 2004 Oct;134(10 Suppl):2775S-2782S; discussion 2796S-2797S. doi: 10.1093/jn/134.10.2775S. Review.
  9. Stadler S, Gempel K, Bieger I, Pontz BF, Gerbitz KD, Bauer MF, Hofmann S.Detection of neonatal argininosuccinate lyase deficiency by serum tandem massspectrometry. J Inherit Metab Dis. 2001 Jun;24(3):370-8.
  10. Wilcken B, Smith A, Brown DA. Urine screening for aminoacidopathies: is itbeneficial? Results of a long-term follow-up of cases detected bny screening one millon babies. J Pediatr. 1980 Sep;97(3):492-7.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 779
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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