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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
1992-6-29
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pubmed:abstractText |
Two inborn errors in the methyl oxidation of corticosterone to form aldosterone correspond to the two oxygenation-hydroxylation reactions required for this transformation. Both defects are characterized by overproduction of corticosterone of glomerulosa zone origin and deficient synthesis of aldosterone. In the type 1 corticosterone methyl oxidase defect (CMO I) impairment in the first step is reflected in decreased production of 18-hydroxycorticosterone while in CMO II an impaired second step is characterized by overproduction of 18-hydroxycorticosterone leading to an increased 18-hydroxycorticosterone:aldosterone metabolite ratio as a diagnostic index. This metabolite ratio may be increased somewhat in CMO I but not as much as in CMO II. The absolute value of 18-hydroxycorticosterone is a more reliable discriminator as is the corticosterone:18-hydroxycorticosterone metabolite ratio which is increased in CMO I and decreased in CMO II. On the basis of these findings, a North American kindred is reclassified as CMO I making this defect the more prevalent form in the Western Hemisphere. The two biochemical phenotypes will very likely describe different mutations in the gene encoding cytochrome P-450 CMO.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0021-972X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
74
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1415-20
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:1592889-18-Hydroxycorticosterone,
pubmed-meshheading:1592889-Adolescent,
pubmed-meshheading:1592889-Adrenal Cortex Hormones,
pubmed-meshheading:1592889-Adult,
pubmed-meshheading:1592889-Aldosterone,
pubmed-meshheading:1592889-Aldosterone Synthase,
pubmed-meshheading:1592889-Child,
pubmed-meshheading:1592889-Child, Preschool,
pubmed-meshheading:1592889-Corticosterone,
pubmed-meshheading:1592889-Female,
pubmed-meshheading:1592889-Humans,
pubmed-meshheading:1592889-Hydrocortisone,
pubmed-meshheading:1592889-Male,
pubmed-meshheading:1592889-Metabolism, Inborn Errors,
pubmed-meshheading:1592889-Mixed Function Oxygenases,
pubmed-meshheading:1592889-Phenotype
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pubmed:year |
1992
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pubmed:articleTitle |
The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone.
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pubmed:affiliation |
Veterans Affairs Hospital, Bronx, New York 10468.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, U.S. Gov't, Non-P.H.S.
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