Chapter 20
Monogenic Causes of Diabetes
Brittany L. Resnick,
Maggie H. Shepherd,
Andrew T. Hattersley,
Brittany L. Resnick
Exeter NIHR Clinical Research Facility, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK
Search for more papers by this authorMaggie H. Shepherd
Exeter NIHR Clinical Research Facility, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
Search for more papers by this authorAndrew T. Hattersley
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
Search for more papers by this authorBrittany L. Resnick,
Maggie H. Shepherd,
Andrew T. Hattersley,
Brittany L. Resnick
Exeter NIHR Clinical Research Facility, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK
Search for more papers by this authorMaggie H. Shepherd
Exeter NIHR Clinical Research Facility, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
Search for more papers by this authorAndrew T. Hattersley
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
Search for more papers by this authorBook Editor(s):Richard I.G. Holt MA, MB BChir, PhD, FRCP, FHEA,
Allan Flyvbjerg MD, DMSc,
Richard I.G. Holt MA, MB BChir, PhD, FRCP, FHEA
Professor in Diabetes & Endocrinology Faculty of Medicine Honorary Consultant Physician
Human Development and Health
University of Southampton, Southampton, UK
Southampton National Institute for Health Research Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK
Search for more papers by this authorAllan Flyvbjerg MD, DMSc
Former CEO at Steno Diabetes Center Copenhagen (SDCC) Professor of Clinical Endocrinology
The Capital Region of Denmark
Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Search for more papers by this authorFirst published: 12 January 2024
Summary
Monogenic diabetes results from inheritance of one or more variants in a single gene and accounts for 1–3% of diabetes cases diagnosed under the age of 30 years. The majority (90%) of monogenic diabetes cases are initially misdiagnosed as type 1 diabetes or type 2 diabetes. Monogenic diabetes where the primary disorder affects the β cell has four main clinical presentations: familial mild fasting hyperglycaemia (glucokinase maturityonset diabetes of the young, MODY); familial young-onset diabetes (transcription factor MODY); neonatal diabetes; and diabetes with extra-pancreatic features. Diagnostic testing for the major causes of monogenic diabetes is now widely available. Molecular genetic testing is traditionally guided by the clinical phenotype and also the relative prevalence of variants within that population. Glucokinase catalyses the phosphorylation of glucose to glucose-6-phosphate, the first and rate-limiting step in intracellular glucose metabolism in both β cells and hepatocytes.
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