VARIABILITY OF CMO-II-DEFICIENCY

We report on three cases of Corticosterone Methyl Oxidase Typ II defic iency in two siblings and one boy. All three children were presented w ith typical symptoms of a saltlosing syndrome (vomiting, poor drinking , weight loss, hypotonia). Hyponatremia and hyperkalemia, low plasma a ldosterone concentrations when related to high plasma-renin-activities suggested deficiency in the final steps of aldosterone biosynthesis. Variable degrees of enzyme deficiency and no relation of biochemical f indings to he clinical symptoms were observed. Clinical symptoms becam e less severe with age. Diagnosis of CMO II-deficiency was established by an abnormal high ratio of 18-hydroxycorticosterone to aldosterone, by measurement of their precursors and metabolites in plasma and urin e. In one sibling negative values may have been caused by suppression of the renin-angiotensin-system due to high sodium replacement therapy .