title: 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.
authors.affiliation: Division of Medical Genetics and the Saban Research Institute, Childrens Hospital Los Angeles, Los Angeles, CA 90027, USA. rboles@chla.usc.edu
authors.forename: Richard G
authors.initials: RG
authors.lastname: Boles
authors.forename: Megan L
authors.initials: ML
authors.lastname: Stone
mesh_terms: D000328:Adult; D003271:Contraceptive Agents, Female / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000188:drug therapy*; D020162:Hyperargininemia; D017258:Medroxyprogesterone Acetate / Q000627:therapeutic use*; D008598:Menstruation / Q000187:drug effects*; D016896:Treatment Outcome
chemical_list: D003271:Contraceptive Agents, Female; D017258:Medroxyprogesterone Acetate