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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 

A patient with arginase deficiency and episodic hyperammonemia successfully treated with menses cessation.

Arginase deficiency is an urea cycle disorder that generally presents with mental retardation and spasticity, yet uncommonly with episodes of hyperammonemia. A female adolescent with arginase deficiency developed hyperammonemic episodes temporally related to her menstrual cycle, which ceased upon adequate treatment with depot medroxy progesterone acetate. A similar case was previously reported. A catamenial trigger should be considered in adolescent female arginase-deficient patients with episodes of hyperammonemia.[1]

References

  1. A patient with arginase deficiency and episodic hyperammonemia successfully treated with menses cessation. Boles, R.G., Stone, M.L. Mol. Genet. Metab. (2006)
 
 
 
 
 
 
 
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