title: Persistent hyperkalaemia in vitamin B12 unresponsive methylmalonic acidaemia.
abstract: Persistent hyperkalaemia was found in a patient with vitamin B12 unresponsive methylmalonic acidaemia associated with hyperuricaemia. At 3 years and 8 months of age, a serum potassium level of 6.8 mmol L-1 was found when blood gas measurement was normal. One year later azotaemia was noted. At the age of 5 years, renal function studies disclosed hyperaldosteronism, decreased creatinine clearance, reduction of the reabsorption of sodium at distal diluting segments and inadequate concentration of urine at the collecting ducts. The reduction of the reabsorption of sodium, which may have resulted in decreased potassium excretion, and the decrease in glomerular filtration rate, together with the superimposed excess intake of potassium, appeared to be responsible for the hyperkalaemia. Dietary potassium restriction was effective in suppressing the hyperkalaemia.
authors.affiliation: Department of Pediatrics and Child Health, Kurume University, School of Medicine, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Morita
authors.forename: Y
authors.initials: Y
authors.lastname: Ito
authors.forename: M
authors.initials: M
authors.lastname: Yoshino
authors.forename: Y
authors.initials: Y
authors.lastname: Koga
authors.forename: S
authors.initials: S
authors.lastname: Yano
authors.forename: I
authors.initials: I
authors.lastname: Yoshida
authors.forename: F
authors.initials: F
authors.lastname: Yamashita
mesh_terms: D002648:Child; D005260:Female; D005919:Glomerular Filtration Rate; D006801:Humans; D006929:Hyperaldosteronism / Q000150:complications; D006947:Hyperkalemia / Q000150:complications*; D008314:Malonates / Q000097:blood*; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000188:drug therapy / Q000503:physiopathology; D008764:Methylmalonic Acid / Q000097:blood*; D014511:Uremia / Q000150:complications; D014527:Uric Acid / Q000652:urine; D014805:Vitamin B 12 / Q000627:therapeutic use
chemical_list: D008314:Malonates; D014527:Uric Acid; D008764:Methylmalonic Acid; D014805:Vitamin B 12