Abstract
Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that is characterized by autosomal dominant mode of inheritance, an early onset diabetes, mostly mild hyperglycemia as a result of a primary defect in pancreatic β-cell function. MODY represents less than 2% of all diabetes cases and is commonly misdiagnosed as type 1 or type 2 diabetes mellitus. It is a genetically heterogeneous form of monogenic diabetes that is caused by mutations occurring in a number of different genes thus tends to cause a slightly different variant of diabetes. At least 14 MODY subtypes with distinct genetic etiologies have been identified to date. MODY is typically diagnosed during late childhood, adolescence, or early adulthood and is usually observed to develop in adults during their late 50's. One of the main drawbacks in its diagnosis is that many people with MODY are misdiagnosed as having type 1 or type 2 diabetes owing to low index of suspicion and lack of availability of genetic testing at affordable cost. However, a molecular and genetic diagnosis results in a better treatment and could also help in identifying other family members with MODY. A high index of suspicion is required to diagnose cases of MODY as misdiagnosis and inappropriate treatment may have a significant impact on quality of life (QOL) with increased cost and unnecessary treatment with insulin.
Highlights
Diabetes mellitus (DM) is a chronic metabolic disorder with widespread implications on the social, economic, and health status of an individual
Forty patients of clinically identified Maturity-onset diabetes of the young (MODY) were subjected to the amino acid polymorphism (SNP) of Ala>Val on codon 98 in the HNF1α gene (MODY 3), the mutant genotype was seen in 50% of patients
MODY is a rarer form of diabetes; its presence has been reported from across the world
Summary
Diabetes mellitus (DM) is a chronic metabolic disorder with widespread implications on the social, economic, and health status of an individual. The symptoms of this disease manifest slowly with the absence of obesity and ketosis in most cases. Bhat JA; et al; Maturity-onset diabetes of the young (MODY): Recognition is the need of the hour
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