go back

CORTICOSTERONE METHYL OXIDASE II DEFICIENCY - CMO II

CORTICOSTERONE METHYL OXIDASE II DEFICIENCY - CMO II
CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2, CYP11B2, ALDOSTERONE DEFICIENCY II
610600
OMIM = Online Mendelian Inheritance of Men
99763
Cytochrome P450 11B2, mitochondrial
1.14.15.4
8q24.3
E27.4
rare
autosomal recessive
mutation in the CYP11B2 gene
partial loss of P-450(C18) activities causes CMO II deficiency [Kuribayashi 2003]
Laboratory findings    18-Hydroxy-11-dehydrocorticosterone inc (urine)
    18-Hydroxycorticosterone inc (plasma)
    18-Hydroxycorticosterone inc (urine)
    18-Oxocortisol inc (urine)
    Aldosterone dec (plasma)
    Aldosterone/renin ratio dec (plasma)
    Corticosterone inc (urine)
    Potassium inc (serum)
    Renin activity (PRA) or renin inc (plasma)
    Sodium dec (serum)
    Sodium dec (urine)
Symptoms    dehydration
    diarrhea
    failure to thrive
    growth retardation, poor growth
    headache (severe, recurrent or occipital, migraine)
    hypertension
    metabolic acidosis
    onset, infancy
    skin, abnormal
    vomiting