Congenital hypoaldosteronism due to deficiency of corticosterone methyl oxidase i (cmo-i) activity

ABSTRACT Congenital isolated hypoaldosteronism is associated with salt-losing and failure to thrive in infancy. The terminal stages of aldosterone (A) synthesis require two mixed function

oxidases: CMO-I and CMO-II. Corticosterone (B) is converted to a labile intermediate by CMO-I which is then converted to A by CMO-II. Absence of CMO-II activity results in low circulating

levels of A and accumulation of 18-hydroxycorticosterone (18-OHB) generated from the labile intermediate. The normal ratio of 180HB/A in both urine and plasma is 2. Ratios in infants with

CMO-II deficiency have been >15. We now report an infant with CMO-I deficiency A 5 week female infant presented with failure to thrive and hyperkalemia (10 mEq/L),hyponatremia

(110),hyperrenninemia (804 ng/ml/hr) and hypoaldosteronemia (2.7 ng/dl). B was elevated (1128,1013 ng/dl).Desoxycorticosterone (DOC) and 18-hydroxy-DOC levels were mildly elevated (25 and 21

ng/dl respectively).18-OHB values were in the normal range (25,22 ng/dl).Plasma ratios of 18-OHB/A were 2.5,3.1. Urinary ratios of the metabolites of these compounds ranged between 2.3 and

2.6. ACTH did not increase A levels significantly (6.7→8.9), but B increased three-fold (473→1559). 18-OHB levels increased only to the high normal range (22→47). The clinical and

biochemical abnormalities readily corrected with mineralocorticoid and salt. Low A levels in the presence of normal 18-OHB/A ratios in the salt depleted state constitute evidence for

decreased CMO-I activity. ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Dept.Ped., Univ.So.Fl.Col.Med., All Child.Hosp., St. Petersburg, FL D Shulman, A Vargas, J Prebis, J

Melby, T Wilson & A Root Authors * D Shulman View author publications You can also search for this author inPubMed Google Scholar * A Vargas View author publications You can also search

for this author inPubMed Google Scholar * J Prebis View author publications You can also search for this author inPubMed Google Scholar * J Melby View author publications You can also search

for this author inPubMed Google Scholar * T Wilson View author publications You can also search for this author inPubMed Google Scholar * A Root View author publications You can also search

for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Shulman, D., Vargas, A., Prebis, J. _et al._ CONGENITAL

HYPOALDOSTERONISM DUE TO DEFICIENCY OF CORTICOSTERONE METHYL OXIDASE I (CMO-I) ACTIVITY. _Pediatr Res_ 18 (Suppl 4), 177 (1984). https://doi.org/10.1203/00006450-198404001-00505 Download

citation * Issue Date: 01 April 1984 * DOI: https://doi.org/10.1203/00006450-198404001-00505 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content:

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