CONGENITAL HYPOALDOSTERONISM DUE TO DEFICIENCY OF CORTICOSTERONE METHYL OXIDASE I (CMO-I) ACTIVITY
| Autor: | Dorothy I. Shulman, Alfonso Vargas, J Melby, T Wilson, J Prebis, Allen W. Root |
|---|---|
| Rok vydání: | 1984 |
| Předmět: |
medicine.medical_specialty
Aldosterone genetic structures Urine medicine.disease eye diseases chemistry.chemical_compound Mixed Function Oxidase Endocrinology chemistry Corticosterone Internal medicine Pediatrics Perinatology and Child Health Failure to thrive medicine sense organs medicine.symptom Corticosterone methyl oxidase Hypoaldosteronism |
| Zdroj: | Pediatric Research. 18:177A-177A |
| ISSN: | 1530-0447 0031-3998 |
| DOI: | 10.1203/00006450-198404001-00505 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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