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Yang, C. Arginase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4761 (accessed on 28 September 2026).
Yang C. Arginase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4761. Accessed September 28, 2026.
Yang, Catherine. "Arginase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4761 (accessed September 28, 2026).
Yang, C. (2020, December 24). Arginase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4761
Yang, Catherine. "Arginase Deficiency." Encyclopedia. Web. 24 December, 2020.
Arginase Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/arginase-deficiency

Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if 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. Crombez EA, Cederbaum SD. Hyperargininemia due to liver arginase deficiency.Mol Genet Metab. 2005 Mar;84(3):243-51.
  3. Endo F, Matsuura T, Yanagita K, Matsuda I. Clinical manifestations of inbornerrors of the urea cycle and related metabolic disorders during childhood. JNutr. 2004 Jun;134(6 Suppl):1605S-1609S; discussion 1630S-1632S, 1667S-1672S.doi: 10.1093/jn/134.6.1605S. Review.
  4. 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.
  5. Sun A, Crombez EA, Wong D. Arginase Deficiency. 2004 Oct 21 [updated 2020 May 28]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1159/
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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: 770
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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