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.
Boles
Richard G
RG
Division of Medical Genetics and the Saban Research Institute, Childrens Hospital Los Angeles, Los Angeles, CA 90027, USA. rboles@chla.usc.edu
Stone
Megan L
ML
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
D003271:Contraceptive Agents, Female; D017258:Medroxyprogesterone Acetate