Learn About Rabson-Mendenhall Syndrome
Rabson-Mendenhall 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. In people with Rabson-Mendenhall syndrome, insulin resistance impairs blood glucose regulation and ultimately leads to a condition called diabetes mellitus, in which blood glucose levels can become dangerously high.
Rabson-Mendenhall 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.
Rabson-Mendenhall syndrome is estimated to affect less than 1 per million people worldwide. Several dozen cases have been reported in the medical literature.
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.
Ballad Health Medical Associates Family Medicine And Internal Medicine
Dr. Marta Wayt’s career is guided by faith and a passion for treating the underserved. She is an internal medicine doctor and a Regional Medical Director for Ballad Health Medical Associates. She also serves as the volunteer medical director of Providence Medical Clinic of Kingsport, a clinic that offers free acute and primary care to residents of Sullivan County and the greater Kingsport area living at 150% and below poverty guidelines. Her mission is simple: “I am a devoted Christian who was called into medicine to serve my fellow man, especially senior adults and complicated patients,” she says. Focusing on her calling helped her find her life’s path. “I chose internal medicine because it gave me the best training to take care of those complicated patients. I chose primary care because I like to develop relationships with my patients over their lifetimes.”. Dr. Wayt is rated as an Advanced provider by MediFind in the treatment of Rabson-Mendenhall Syndrome. Her top areas of expertise are Macroamylasemia, Ballinger-Wallace Syndrome, Breast Cancer, Anemia, and Endoscopy.
Wataru Ogawa practices in Kobe, Japan. Mr. Ogawa is rated as an Elite expert by MediFind in the treatment of Rabson-Mendenhall Syndrome. His top areas of expertise are Rabson-Mendenhall Syndrome, SHORT Syndrome, Isolated ACTH Deficiency, Gastrectomy, and Sleeve Gastrectomy.
Takeru Ito practices in Hiratsuka, Japan. Mr. Ito is rated as an Elite expert by MediFind in the treatment of Rabson-Mendenhall Syndrome. His top areas of expertise are Rabson-Mendenhall Syndrome, Donohue Syndrome, Chronic Recurrent Multifocal Osteomyelitis, and Genetic Epilepsy with Febrile Seizures Plus (GEFS+).
Published Date: December 01, 2014
Published By: National Institutes of Health