Chronic kidney disease in propionic acidemia.
Oleg A ShchelochkovIrini ManoliJennifer L SloanSusan FerryAlexandra PassCarol Van RyzinJennifer MylesMegan SchoenfeldPeter McGuireDouglas R RosingMark D LevinJeffrey B KoppCharles P VendittiPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
CKD is common in adults with PA and is associated with age. The poor predictive performance of standard eGFR estimating equations, likely due to reduced creatine synthesis in kidney and liver, could delay the recognition of CKD and management of ensuing complications in this population.