Triosephosphate Isomerase DeficiencySymptoms, Doctors, Treatments, Advances & More
Triosephosphate Isomerase Deficiency Overview
Learn About Triosephosphate Isomerase Deficiency
Triosephosphate isomerase deficiency is a disorder characterized by a shortage of red blood cells (anemia), movement problems, increased susceptibility to infection, and muscle weakness that can affect breathing and heart function.
Mutations in the TPI1 gene cause triosephosphate isomerase deficiency. This gene provides instructions for making an enzyme called triosephosphate isomerase 1. This enzyme is involved in a critical energy-producing process known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy for cells.
Triosephosphate isomerase deficiency is likely a rare condition; approximately 40 cases have been reported in the scientific 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.
Paula Weisenberger is a Hematologist Oncology specialist and an Oncologist practicing medicine in Fairfield, Ohio. Dr. Weisenberger is rated as an Experienced provider by MediFind in the treatment of Triosephosphate Isomerase Deficiency. She is also highly rated in 74 other conditions, according to our data. Her clinical expertise encompasses Paget Disease of the Breast, Breast Cancer, Angiosarcoma, Familial Colorectal Cancer, and Endoscopy. Dr. Weisenberger is board certified in American Board Of Internal Medicine. Dr. Weisenberger is currently accepting new patients.
Published Date: August 01, 2014
Published By: National Institutes of Health
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