14th September 2024

Maturity onset diabetes of the young

Maturity-Onset Diabetes of the Young (MODY) comprises a group of autosomal dominant disorders that typically present in adolescence or young adulthood (< 25 years of age). Indicators towards a diagnosis include:

• Young age at onset of diabetes
• Lack of ketosis at presentation
• Negative autoantibodies
• Strong family history of diabetes

young diabetic, lack of ketosis at presentation, negative autoantibodies and strong family history. Many patients with MODY are misdiagnosed and treated with low doses of insulin for extended periods until the true genetic diagnosis is made. Approximately 1-2% of diabetics in this country have MODY. Diagnosis is ultimately confirmed through genetic testing. Over six mutations have been linked to the development of MODY, with the most common being mutations in HNF1-alpha and glucokinase. The specific type of mutation dictates the treatment approach, and sulphonylureas are often effective.

References

• Balasubramanyam, A. (2024) Classification of diabetes mellitus and genetic diabetic syndromes, UpToDate. Edited by D.M. Nathan, J.I. Wolfsdorf, and K. Rubinow. Available at: https://www.uptodate.com/contents/classification-of-diabetes-mellitus-and-genetic-diabetic-syndromes#H403506088 (Accessed: 20 February 2024)
• Anık, Ahmet, Çatlı, Gönül, Abacı, Ayhan and Böber, Ece. “Maturity-onset diabetes of the young (MODY): an update” Journal of Pediatric Endocrinology and Metabolism, vol. 28, no. 3-4, 2015, pp. 251-263. https://doi.org/10.1515/jpem-2014-0384