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Monogenic diabetes is a rare form of diabetes that is caused by a mutation or change in a single gene. It differs from both type 1 and type 2 diabetes and most often needs genetic testing for a precise and accurate diagnosis.
The production of insulin is reduced when it comes to monogenic diabetes. This eventually causes blood glucose levels to rise. That said, not all cases of monogenic diabetes need insulin treatment.
There are two primary monogenic forms of diabetes:
- Neonatal diabetes mellitus (or NDM), which occurs in newborns and infants
- Maturity-Onset Diabetes of the Young (or MODY), which is more common than NDM and manifests in adolescents and young adults.
What is Neonatal Diabetes?
Neonatal diabetes is a monogenic type of diabetes occurring in the first 6-12 months of a newborn’s life. NDM is quite a rare condition that accounts for up to 1 in 400,000 infants throughout the United States.
Infants with NDM fail to produce sufficient insulin, leading to an increase in blood glucose levels. NDM is frequently mistaken for type 1 diabetes, but the latter is rarely seen in those infants below 6 months of age.
Diabetes that manifests in the first 6 months of life almost always has some sort of genetic cause. Researchers have successfully identified some specific genes and genetic mutations that can lead to NDM. In nearly 50% of those with NDM, the condition is unfortunately lifelong and is referred to as permanent neonatal diabetes mellitus (PNDM).
In the remaining 50% of those with NDM, the condition is temporary and transient that disappears during infancy itself but can resurface in later stages of one’s life. This NDM type is known as transient neonatal diabetes mellitus (TNDM).
What is MODY in Diabetes?
MODY is a monogenic type of diabetes that generally occurs first during adolescence or early childhood. MODY accounts for around 2% of all diabetes cases in the United States, affecting those aged 20 and younger.
Numerous types of genetic mutations are known to cause MODY. All these mutations severely limit the ability of the pancreas to produce insulin, causing high blood sugar or hyperglycaemia, which can progressively damage tissues and organs of the body, especially blood vessels, nerves, kidneys, and eyes.
Clinical features of MODY are dependent on the type of genetic mutation. Individuals with a specific type of mutations may demonstrate slightly elevated blood glucose levels that remain stable throughout the course of life, have mild or negligible diabetic symptoms, and do not develop any long-term health complications. In such individuals, their hyperglycaemia may be diagnosed only during routine blood tests. That said, other mutations need specific treatment with either insulin or a type of oral medication for diabetes called sulfonylureas.
MODY is often confused with type 1 or type 2 diabetes. In prior times, individuals with MODY have typically not been obese or overweight. Neither do they have other risk factors for type 2 diabetes, such as abnormal levels of blood fat or high blood pressure. However, as more individuals become overweight or obese among the general population, those with MODY may also be obese or overweight.
Though both MODY and type 2 diabetes tend to run in families, those with MODY generally have a predominant family history of diabetes across multiple successive generations, which means that MODY is present in a grandparent, parent, and child.
Treatment of Monogenic Diabetes
Treatment depends on the type of genetic mutation that causes monogenic diabetes, along with the severity of the condition as well as type.
Some types of monogenic diabetes can be effectively managed with exercise, physical activity, and diet, whereas others need insulin therapy. Treatment with an oral medication called sulfonylurea may be needed, which helps the body release more insulin into the bloodstream.
On a Final Note:
Monogenic diabetes is a type of diabetes that is caused by a single (rather than multiple) gene mutation. This type of diabetes is managed quite differently in comparison with polygenic types (type 1 and type 2 diabetes) and does not always need insulin therapy.
Monogenic diabetes can be treated; however, an accurate diagnosis is needed to obtain the right care. Knowledge of your precise family medical history of diabetes along with genetic testing can help in confirming the presence of this condition.
When it comes to infants and young adults, knowledge of the symptoms to watch out for can help in identifying and treating monogenic diabetes promptly.
