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What is MODY  |  Testing and Diagnosis  |  Disease Management  |  Resources

 

What is MODY?

 

Maturity-onset diabetes of the young (MODY) is important for healthcare professionals to understand and recognize, as it is largely misdiagnosed as type 1 diabetes in younger patients or type 2 diabetes in patients in their 20s and early 30s.1 Correct diagnosis of MODY is essential, as it can predict the clinical course of the patient and guide the most appropriate treatment.2  Clinicians may have as many MODY patients in their practice as type 1 diabetics.3 Genetic testing should be seriously considered for certain patients to help diagnose this condition.

 

MODY is a form of monogenic diabetes in contrast to the more well-known types 1 and 2 diabetes, which are polygenic. MODY is the most common form of monogenic diabetes, and represents approximately 2-5% of all cases of diabetes.3  This means that approximately 540,000 people in the United States alone may have MODY. Typically, MODY first develops during childhood or early adulthood but sometimes remains undiagnosed until later in life.

 

MODY is characterized by autosomal dominant inheritance and is caused by one of several possible gene mutations. MODY subtypes are determined by the specific gene mutation of each individual patient. Most of the gene mutations that cause MODY result in limited insulin production or release by pancreatic b-cells.  MODY subtypes 1, 3, 4, and 5 are associated with mutations in transcription factors involved in the regulation of insulin synthesis; MODY2 is linked to mutations in the glycolytic enzyme glucokinase; and MODY8 is due to mutations in the digestive enzyme carboxyl ester lipase.

 

Because MODY shares some symptoms with types 1 and 2 diabetes, the majority of patients with MODY are first wrongly diagnosed with one of these other forms of diabetes.1  These patients are often not properly diagnosed until they are adults, and sometimes, they may be never diagnosed with MODY. It is important to properly diagnose MODY because the treatment options for the various subtypes of MODY may be very different from the treatments for types 1 and 2 diabetes.2  For example, insulin may not be appropriate for many MODY patients.

 

Fortunately, a genetic test is available for MODY, and this test can help diagnose the majority of people with MODY. Genetic testing should be seriously considered for diabetics of any age with non-ketotic insulin-sensitive hyperglycemia or with a family history of diabetes. Athena Diagnostics offers a genetic test for MODY called the MODY Evaluation. For more information on the MODY Evaluation, please call 800-394-4493 extension 2 or email MODY@athenadiagnostics.com.

 

Signs and Symptoms of MODY

 

Patients with some forms of MODY may have the typical signs and symptoms of types 1 and 2 diabetes, such as hyperglycemia, increased thirst, and increased urination; however, it is important to note that many MODY patients do not have these symptoms. If there is any doubt about whether or not a person could have MODY, a genetic test should be considered.

 

The majority of young MODY patients are first misdiagnosed as type 1 diabetics. The following are clinical indicators that a diagnosis of type 1 diabetes may not be correct:

  • Diagnosis of diabetes before 6 months of age
  • Family history of diabetes with a parent affected
  • Evidence of endogenous insulin production after 3 years of diabetes
  • Pancreatic islet auto-antibodies are absent, especially if measured at diagnosis

The majority of MODY patients in their 20s and early 30s are first misdiagnosed as type 2 diabetics. The following are clinical indicators that a diagnosis of type 2 diabetes may not be correct:

  • Not markedly obese or diabetic family members who are of normal weight
  • Acanthosis nigricans not detected
  • Ethnic background with a low prevalence of type 2 diabetes, e.g. European Caucasian
  • No evidence of insulin resistance with fasting C-peptide within the normal range

With these clinical indicators in mind, genetic testing for MODY should be seriously considered for diabetics of any age with non-ketotic insulin-sensitive hyperglycemia or with a family history of diabetes.

  1. Hattersley, A., et al., (2006) Pediatric Diabetes, 7:352–360.
  2. Timsit, J., et al., (2005) Treat Endocrinol, 4:9-18.
  3. Raeder, H., et al., (2006) Nature Genetics, 38(1): 54-62.
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