Article
Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant.
Journal of clinical research in pediatric endocrinology - 1 Sept 2016
Üstyol Ala, Atabek Mehmet Emre, Taylor Norman, Yeung Matthew Chun-Wing, Chan Angel O K
Abstract excerpt
Isolated aldosterone synthase deficiency may result in life-threatening salt-wasting and failure to thrive. The condition involves hyperkalemia accompanying hyponatremia. Two types of aldosterone synthase deficiency may be observed depending on hormone levels: corticosterone methyl oxidase type 1 (CMO 1) and CMO 2. Herein, we describe a Turkish infant patient with aldosterone synthase deficiency who presented...
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