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

Abstract：

: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.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Boles RG,Stone ML

doi

10.1016/j.ymgme.2006.07.012

subject

Has Abstract

pub_date

2006-12-01 00:00:00

pages

390-1

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(06)00278-2

journal_volume

89

pub_type

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