One of ourÂ adult propionic acidemia patients was recently diagnosed with advanced stage chronic kidney disease (CKD). While CKD is a known complication of methylmalonic acidemia, reports of CKD in propionic acidemia are limited. The most recentÂ report is by Lam et al.Â in Mol Genet Metab. 2011 Aug;103(4):338-40, Â where they describe a 45 year old woman with propionic acidemia who progressed to severe renal failure requiringÂ kidney transplantation. They postulate that a mitochondrial energy deficiency could be contributing to this process.
Like optic atrophy, chronic kidney disease appears to be a recently uncovered late complication of propionic acidemia. It seems that we are only beginning to understand late complications of theseÂ classical metabolic disorders as patients are able to live into adulthood.
Hilary Vernon, MD PhD