What is Monogenic Diabetes
What is Monogenic Diabetes?
Monogenic diabetes is a rare type of diabetes that’s caused by a single gene mutation. It accounts for about 1-2% of all diabetes cases, though its prevalence may actually be up to 5%. It has characteristics of both Type 1 and Type 2 and is often misdiagnosed as one of those more common types.
How do you treat Monogenic diabetes?
Treatment can vary, depending on the particular gene involved and the way diabetes presents in each individual. Some manage their diabetes with diet and exercise, and some use oral medications or insulin. People with this rare form of diabetes are usually very insulin sensitive and use smaller than typical doses of insulin. Their bodies make insulin, but not enough and not always at the right time.
There are two main forms of Monogenic diabetes (with subtypes in each):
- Neonatal diabetes is usually diagnosed in infants from birth to 6 months, though diagnosis may occur later in some cases.
- MODY (Maturity Onset Diabetes of the Young) is usually diagnosed in late childhood to adulthood.
Factors of Monogenic diabetes –
- Monogenic diabetes is usually passed on in an autosomal dominant gene, (a sex-independent gene that’s inherited from one of the parents). This means only one copy of the mutation is needed to develop diabetes. There is usually a strong family history of diabetes and in multiple generations, (although it’s possible for someone to have a spontaneous mutation). Diagnosis, therefore, involves genetic testing for these diabetes-causing gene mutations that disrupt insulin production.
- Monogenic diabetes patients are also usually antibody negative, (though there are cases where low levels of antibodies have been detected). Once treatment for diabetes begins, the antibodies usually resolve.
In addition to blood sugar issues, some of the forms of Monogenic diabetes involve metabolic issues such as:
- Growth problems
- Impaired glycogen storage in the liver
- Impaired fatty acid metabolism
- Exocrine pancreatic insufficiency
One type of MODY involves a baseline fasting blood sugar that’s 2.2 mmol/L40 mg/dL higher than “normal,” as well as hypoglycemia that occurs at a higher level. Another type of MODY involves kidney and reproductive organ abnormalities. Research thus far is limited, and much of it is somewhat outdated. Like many rare conditions, funding for Monogenic diabetes research is difficult for researchers to come by.