Article
[Variability of corticosterone methyl oxidase (type II) deficiency. Presentation of three case reports].
Klinische Padiatrie - 1 Jan 2000
Rosendahl W, König M, Haack D, Vecsei P, Lewicka S
Abstract excerpt
We report on three cases of Corticosterone Methyl Oxidase Typ II deficiency in two siblings and one boy. All three children were presented with typical symptoms of a saltlosing syndrome (vomiting, poor drinking, weight loss, hypotonia). Hyponatremia and hyperkalemia, low plasma aldosterone concen...
Topics
- Aldosterone
- Cytochrome P-450 CYP11B2
- Diagnosis, Differential
- Failure to Thrive
- Female
- Humans
- Hyperkalemia
- Hyponatremia
- Infant, Newborn
- Male
- Mixed Function Oxygenases
- Phenotype
