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Monogenic Disorders of the β-Cell

  1. Ewan R. Pearson,
  2. Andrew T. Hattersley

Published Online: 15 DEC 2003

DOI: 10.1002/0470862092.d0406

International Textbook of Diabetes Mellitus

International Textbook of Diabetes Mellitus

How to Cite

Pearson, E. R. and Hattersley, A. T. 2003. Monogenic Disorders of the β-Cell. International Textbook of Diabetes Mellitus. .

Author Information

  1. Peninsula Medical School, Exeter, UK

Publication History

  1. Published Online: 15 DEC 2003


Defects in pancreatic β-cell glucose–insulin secretion coupling can cause undersecretion of insulin and hence hyperglycemia and diabetes, or more rarely oversecretion of insulin and hypoglycemia. The most common cause of β-cell dysfunction is seen in type 2 diabetes but this is polygenic and still imprecisely defined. Monogenic disorders of the β-cell account for 3–4% of diabetes and so they are an important cause of diabetes in their own right. The recognition of a monogenic etiology of diabetes has clinical management implications determining clinical course, nonpancreatic manifestations, and choice of treatment. In addition to this clinical importance, the discovery and study of monogenic disorders has given further insight into the physiology and pathophysiology of the β-cell. This chapter will focus on the most prevalent of the monogenic disorders of the β-cell: maturity-onset diabetes of the young and mitochondrial inherited diabetes and deafness. We will also discuss hyperinsulinemia, Wolfram syndrome, thiamine responsive megaloblastic anemia syndrome, Wolcott–Rallison syndrome, mutant insulins, and familial hyperproinsulinemia.


  • maturity onset diabetes of the young;
  • MODY;
  • glucokinase;
  • GCK;
  • hepatic nuclear factor 1α HNF1-α;
  • hepatic nuclear factor 1β; HNF1-β;
  • hepatic nuclear factor 4α;
  • HNF4-α;
  • insulin promoter factor 1;
  • IPF-1;
  • neuroD1;
  • genetic;
  • gene;
  • mutation;
  • insulin;
  • pancreatic;
  • mitochondrial;
  • maternity inherited diabetes and deafness;
  • MIDD;
  • Wolfram;
  • thiamine responsive megaloblastic anemia syndrome;
  • TRMA;
  • Wolcott–Rallison syndrome;
  • insulin processing;
  • mutant insulins;
  • hyperinsulinemia of infancy;
  • HI