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Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up

A Haarmann1, M Mayr, S Kölker

  • 1Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland; Institute of Physiology, University of Zurich, Zurich, Switzerland; Center for Integrative Human Physiology, University of Zurich, Switzerland; radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Switzerland.

Molecular Genetics and Metabolism
|October 8, 2013
PubMed

Keywords:
2-methylcitric acid3-OH-PA3-OH-propionic acidAdoCblCKDChronic kidney diseaseEnd-stage renal diseaseKidney biopsyKidney transplantationMCMCMMMAMMA-uriaMethylmalonic aciduriaPAVitamin B(12) responsivenessadenosylcobalamincblAcblBcblD-variant 2chronic kidney diseasecomplete defect of methylmalonyl-CoA mutase activity OMIM 251000eGFRestimated GFRmethylmalonic acidmethylmalonic aciduriamethylmalonic aciduria and homocystinuria cblD type OMIM 277410methylmalonic aciduria cblA type OMIM 251100methylmalonic aciduria cblB type OMIM 251110methylmalonyl-CoA mutase OMIM 609058mut(0)mut(−)partial defect of methylmalonyl-CoA mutase activity OMIM 251000propionic acid

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