MODY: A rare type of diabetes easily missed—often overlooked, under diagnosed

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Northerner

Admin (Retired)
Relationship to Diabetes
Type 1
Diabetes is undeniably one of the world’s most common chronic non-communicable disease. Despite that, maturity-onset diabetes of the young (MODY) – a type of diabetes frequently misclassified – remains an infrequently heard of entity.

MODY: A monogenic form of diabetes affecting adolescents and young adults
MODY is a distinct type of diabetes that is often diagnosed in those younger than 25 years of age. It is an autosomal dominant monogenic disease that manifests in the presence of specific genetic mutations. These mutations result in either increased insulin resistance or severe impairment in insulin production by affecting pancreatic beta-cell function1.

Over 20 types of genes have been found to be strongly associated to MODY – with HNF1A, glucokinase, HNF1B, HNF4A, IPF1 and NEUROD1 accounting for 87% of all MODY in the United Kingdom2. The discovery of the RFX6 gene mutation adds to the growing list of MODY associated genes. Interestingly, the authors documented for the first time a reduced secretion of gastric inhibitory polypeptide (GIP), a hormone intricately involved in insulin regulation3.

http://today.mims.com/mody-rare-type-of-diabetes-easily-missed-often-overlooked-under-diagnosed
 
But if they’ve just got severe impairment of insulin by beta cells, aren’t they just Type 1? And if it’s insulin resistance, aren’t they just Type 2? Or am I being naive?
 
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