Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.

doi:10.1007/s004310050833

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Article

Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.

European journal of pediatrics - 1 May 1998

Peter M, Bünger K, Sólyom J, Sippell W G

Abstract excerpt

UNLABELLED: Two boys presenting with infection-triggered, life-threatening salt-loss and hyperkalaemia were published in 1991 in the European Journal of Pediatrics. In both boys, the diagnosis of corticosterone methyl oxidase (CMO) deficiency type II has been established on the basis of determina...

Topics

Amino Acid Substitution
Cytochrome P-450 CYP11B2
Humans
Hypoaldosteronism
Infant
Male
Metabolism, Inborn Errors
Mixed Function Oxygenases
Mutation

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