Visit Metagene.de!
Summary
CORTICOSTERONE METHYL OXIDASE II DEFICIENCY - CMO II
CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2, CYP11B2, ALDOSTERONE DEFICIENCY II
610600
OMIM = Online Medalian Inheritance of Men
427
8q24.3
  • mineralocorticoid
  • sodium chloride
rare
autosomal recessive
partial loss of P-450(C18) activities causes CMO II deficiency [Kuribayashi 2003]
symptoms
dehydration
diarrhea
failure to thrive
growth retardation
hypertension
metabolic acidosis
onset, infant
skin, abnormal
vomiting
laboratory finding
Sodium decreasedserum
Potassium increasedserum
Plasma renin activity (PRA) increasedplasma
Aldosterone decreasedplasma
Sodium0.000.00 decreasedurineno data
Corticosterone0.000.00 increasedurineno data
18-Hydroxycorticosterone0.000.00 increasedurineno data
18-Hydroxy-11-dehydrocorticosterone0.000.00 increasedurineno data
Aldosterone/renin ratio decreasedplasma
18-Hydroxycorticosterone increasedplasma
Literature
Mannucci Let al.Increased NO production in lysinuric protein intoleranceJ Inherit Metab Dis282123-1292005
Swift RGet al.Psychiatric findings in Wolfram syndrome homozygotesLancet3360667-6691990
Sperandeo MPet al.A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intoleranceEur J Hum Genet135628-6342005
Korman SHet al.Persistent NKH with transient or absent symptoms and a homozygous GLDC mutationAnn Neurol561139-1432004
Thoene JGCystinosisJ Inherit Metab Dis180380-3861995
Pons Ret al.The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyPediatr Neurol140236-2431996
Kishnani PSet al.Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNA geneEur J Pediatr1550898-9031996
Borgna-Pignatti Cet al.Thiamine-responsive anemia in DIDMOAD syndromeJ Pediatr1140405-4101990