Searchable abstracts of presentations at key conferences in endocrinology

ea0041ep401 | Diabetes (to include epidemiology, pathophysiology) | ECE2016

Co-inheritance of PAX4 and BLK Mutations (MODY 7 and 9) in an 38-year-old African patient with ketosis-prone diabetes

Schmidt Winfried , Lankers Heidi

Introduction: Ketosis-prone diabetes (KPD) is an emerging and uncommon form of diabetes characterized by patients who present with diabetic ketoacidosis without any immunological autoantibody to islet antigens of classic type 1 diabetes. KPD is mostly observed in African-American populations. Multiple, severe forms of β-cell dysfunction appear to underlie the pathophysiology of KPD. The PAX4 gene, causing Maturity-onset diabetes of the young (MODY) subtype 9, alr...