Abstract

Biomarkers currently used for the diagnosis of maturity-onset diabetes of the young

Author(s): Saima A Mughal, Gaya Thanabalasingham & Katharine R Owen

Correct diagnosis of maturity-onset diabetes of the young (MODY) has a significant impact on selecting the optimal treatment, informing the clinical course of the disease and identifying at-risk family members. Despite the clinical value of an accurate diagnosis, many patients with MODY do not undergo confirmatory genetic testing and remain misdiagnosed as Type 1 or 2 diabetics. Possible reasons for this missed diagnosis include considerable overlap in the clinical features of MODY with other common types of diabetes, expense of genetic testing and lack of clinician awareness. It is highly desirable to identify nongenetic biomarkers that can help prioritize patients for genetic testing. This review updates the reader on the current state of biomarker development in MODY and discusses their possible application in clinical practice.