Article
Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.
Molecular genetics and metabolism - 1 Dec 2013
Haarmann A, Mayr M, Kölker S, Baumgartner E R, Schnierda J, Hopfer H, Devuyst O, Baumgartner M R
Abstract excerpt
Chronic renal failure is a well-known long-term complication of methylmalonic aciduria (MMA-uria), occurring even under apparently optimal metabolic management. The onset of renal dysfunction seems to be dependent on the type of defect and vitamin B12-responsiveness. We report on a patient with a vitamin B12-responsive cobalamin A type (cblA) MMA-uria caused by a homozygous stop mutation (p.R145X) in the...
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