
Maturity-Onset Diabetes of the Young (MODY)
Maturity-onset diabetes of the young or MODY is considered by many physicians and researchers to be a subset of Type 2 diabetes (T2D) and is often misdiagnosed as T2D.[1] Some estimates are that over 90% of MODY patients are misdiagnosed as having T2D because many physicians are not aware of the distinctions.[2] About 1-2% of all diabetes cases can be considered MODY. The terminology currently used can be confusing because MODY and T2D are very similar and the distinctions are still being studied. For example, there are least six different genes that when mutated or damaged can cause a form of MODY. However, only three are officially recognized as forms of MODY (MODY1, MODY2 and MODY3—see below). The others are not universally recognized. There are some distinct characteristics of MODY that can differentiate it from other forms of diabetes, but these are not often recognized as well because of the rarity of the conditions. These distinctions can be important because the different types of MODY respond better to different treatments.
The Basics
MODY is caused by a change in a single gene (monogenic) and can be passed from parent to child. Currently, there are 6 known genes that, when mutated or altered, can cause MODY. These genes are called:[3]
HNF4A (MODY1): This is the gene that codes for a protein known as Hepatocyte Nuclear Factor-4 Alpha gene. The protein produced by this gene switches other genes on and off. Babies with this mutation are often born with macrosomia—they are larger than normal (over 9 pounds). They also may have low blood sugar early in life. Adults
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