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Pathway Description
Argininemia
Homo sapiens
Disease Pathway
Created: 2013-08-19
Last Updated: 2022-12-11
Argininemia is caused by a mutation in the gene ARG, encoding liver arginase, which hydrolyses arginine to urea and ornithine in the last step of the urea cycle. A defect in liver arginase causes accumulation of ammonia in blood; arginine, creatine, guanidinoacetate, and homoarginine in plasma; urea nitrogen in serum; arginine and homoarginine in spinal fluid; and arginiosuccinate orotic acid, and uracil in urine. Symptoms include ataxia, cerebral atrophy, chorea, jaundice, and seizures.
References
Argininemia References
[OMIM: Entry 207800](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=207800)
[Metagene: id_d=60](http://www.metagene.de/program/d.prg?id_d=60)
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Urea Cycle References
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Pubmed: 14702039
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Pubmed: 3426581
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Pubmed: 3377777
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Pubmed: 3399399
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Pubmed: 12807890
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