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Medicine Endocrinology c0253fea

In maturity onset diabetes on the young ( mody) not found is.

A
Family history positive
B
Young onset
C
Insulin receptor resistance
D
Glucokinase deficiency
High-Yield Explanation
(D) (Glucokinase deficiency) (2968- H 18Th)Maturity- onset diabetes of the young (MODY)* Single gene defect with autosomal dominant inheritance* Early onset of hypoglycemia (usually <25 years)** Mutations in the insulin receptors cause a group of rare disorders characterized by severe insulin resistance *** MODY - ie noninsulin requiring diabetes presenting before theage of 25 years, very rarely, diabetes can develop at or soon after birth. This neonatal diabetes is usually genetic in origin with 50% due to mutations in the KATP channel of the pancreatic B cell causing insulin deficiency and diabetic ketoacidosis. However sulphonyl urea drugs overcome the defect in potassium channel signaling, so that insulin therapy is not necessary in these patients (807- Dividson 22nd)* The genetic mutation seen in the most common type of MODY is Hepatocyte Nuclear factor 1 (one)

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