Visit Metagene.de!
Summary
CORTICOSTERONE METHYL OXIDASE I DEFICIENCY- CMO I
ALDOSTERONE DEFICIENCY DUE TO DEFECT IN 18-HYDROXYLASE, ALDOSTERONE DEFICIENCY I
203400
OMIM = Online Medalian Inheritance of Men
99763
8q24.3
  • mineralocorticoid
rare
autosomal recessive
mutation in the CYP11B2 gene
symptoms
dehydration
failure to thrive
feeding difficulties, poor feeding
growth retardation, poor growth
hyperkalemia
metabolic acidosis
onset, neonatal
vomiting
laboratory finding
Sodium decreasedserum
Potassium increasedserum
Aldosterone not detectableplasma
18-Hydroxycorticosterone low/normalplasma
Literature
Mannucci Let al.Increased NO production in lysinuric protein intoleranceJ Inherit Metab Dis282123-1292005
Korman SHet al.Persistent NKH with transient or absent symptoms and a homozygous GLDC mutationAnn Neurol561139-1432004
Jaeken Jet al.3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesisArch Dis Child740542-5451996
Pons Ret al.The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyPediatr Neurol140236-2431996
Awaad Yet al.Baclofen in the treatment of polymyoclonus and ataxia in a patient with homocystinuriaJ Child Neurol104294-2961995
Kure Set al.Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patientsJ Pediatr1446827-8292004
Barrett TGPoulton K, Bundey SDIDMOAD syndrome: further studies and muscle biochemistryJ Inherit Metab Dis180218-2201995
Borgna-Pignatti Cet al.Thiamine-responsive anemia in DIDMOAD syndromeJ Pediatr1140405-4101990