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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
symptoms
dehydration
failure to thrive
feeding difficulties, poor feeding
growth retardation
metabolic acidosis
onset, newborn
vomiting
laboratory finding
Sodium decreasedserum
Potassium increasedserum
Aldosterone not detectableplasma
18-Hydroxycorticosterone low/normalplasma
Literature
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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
Barrett TGPoulton K, Bundey SDIDMOAD syndrome: further studies and muscle biochemistryJ Inherit Metab Dis180218-2201995
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