Learn About Donohue Syndrome

What is the definition of Donohue Syndrome?

Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. Severe insulin resistance leads to problems with regulating blood sugar levels and affects the development and function of organs and tissues throughout the body.

Save information for later
Sign Up
What are the causes of Donohue Syndrome?

Donohue syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream. This binding triggers signaling pathways that influence many cell functions.

How prevalent is Donohue Syndrome?

Donohue syndrome is estimated to affect less than 1 per million people worldwide. Several dozen cases have been reported in the medical literature.

Is Donohue Syndrome an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Donohue Syndrome Local Doctors?
Distinguished
Distinguished
 
 
 
 
Learn about our expert tiers
Learn more
Distinguished
What are the latest Donohue Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

Published Date: December 01, 2014Published By: National Institutes of Health

What are the Latest Advances for Donohue Syndrome?
A New Mutation of the INSR Gene in a 13-Year-Old Girl with Severe Insulin Resistance Syndrome in China.
Summary: A New Mutation of the INSR Gene in a 13-Year-Old Girl with Severe Insulin Resistance Syndrome in China.
Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center.
Summary: Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center.
Tired of the same old research?
Check Latest Advances