Yeungnam Univ J Med.  2020 Jan;37(1):13-21. 10.12701/yujm.2019.00409.

Maturity-onset diabetes of the young: update and perspectives on diagnosis and treatment

Affiliations
  • 1Department of Pediatrics, Yeungnam University College of Medicine, Daegu, Korea

Abstract

Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of monogenic disorders characterized by ß-cell dysfunction. MODY accounts for between 2% and 5% of all diabetes cases, and distinguishing it from type 1 or type 2 diabetes is a diagnostic challenge. Recently, MODY-causing mutations have been identified in 14 different genes. Sanger DNA sequencing is the gold standard for identifying the mutations in MODY-related genes, and may facilitate the diagnosis. Despite the lower frequency among diabetes mellitus cases, a correct genetic diagnosis of MODY is important for optimizing treatment strategies. There is a discrepancy in the disease-causing locus between the Asian and Caucasian patients with MODY. Furthermore, the prevalence of the disease in Asian populations remains to be studied. In this review, the current understanding of MODY is summarized and the Asian studies of MODY are discussed in detail.

Keyword

Diabetes mellitus; Genes; Genetic testing; Maturity-onset diabetes of the young
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