Hyperargininemia
Definition:
Hyperargininemia is an autosomal recessive disorder caused by a defect in the arginase I enzyme resulting in high plasma arginine and ammonia levels, that develops encephalopathy.
References:
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[1]. Eric A Crombez, et al. Hyperargininemia due to liver arginase deficiency. Mol Genet Metab. 2005 Mar;84(3):243-51. [Content Brief]
[2]. Fernando Scaglia, et al. Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):113-20. [Content Brief]
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