Diagnosis of maturity Onset Diabetes of the Young

By  , Expert Content
Jan 03, 2012

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Maturity Onset Diabetes of the Young (MODY) is a type of diabetes that is characterised by elevated blood sugar (hyperglycemia) from an early age (generally before age 25 years). These people have impaired insulin secretion and minimal or no defects in insulin action. MODY is a monogenic form of diabetes (diabetes caused due to single gene defect, which limits the ability of the pancreas to produce insulin). Several different gene mutations have been shown to cause MODY. In most cases of MODY, the problem starts in adolescence or early adulthood, but may remain undiagnosed until later in life. Many people with MODY are not diagnosed correctly and may be treated as Type 1 or Type 2 diabetes. Diagnosing MODY is important as treatment of  diabetes can be different than treatment for type 1 or 2 diabetes.

Why is it important to recognise MODY:
Currently, six types of MODY are recognised based on gene defect. Knowing the type of MODY a person has can help one select the most appropriate treatment. Apart from this, the doctor can advise the patient regarding progression and prognosis of diabetes.

Diagnostic genetic test: Diagnosis of MODY is confirmed by a ‘diagnostic genetic test’ done on the patient’s blood sample. A blood sample is taken and then sent to a specialised lab (molecular genetics laboratory) for analysis. During the test, DNA is isolated from the blood sample. The DNA is analysed for gene defects that are known to cause this type of monogenic diabetes.

Other blood tests:
tests may be done to distinguish MODY from type 1 and 2 diabetes. Certain blood tests can help the doctor determine the type of diabetes one has. To differentiate from type 1 diabetes, your doctor will do tests to show the absence of diabetes antibodies (anti-insulin, anti-islet, anti-GAD).Your doctor will do tests to check whether you have insulin resistance or not. The absence of insulin resistance in obese people with diabetes indicates MODY instead of type 2 diabetes. People with type 2 diabetes have insulin resistance. Insulin resistance, however, has been noted to occur in some obese people with MODY.

Apart from this, the doctor will do tests to check your blood sugar levels and HbA1C (glycosylated hemoglobin) level to determine your long term blood sugar control.


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