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.
The Association Of University Physicians
Raya Mawad is a Hematologist Oncology specialist and a Hematologist in Seattle, Washington. Dr. Mawad is rated as an Advanced provider by MediFind in the treatment of Triosephosphate Isomerase Deficiency. Her top areas of expertise are Acute Myeloid Leukemia (AML), Acute Myeloblastic Leukemia without Maturation, Philadelphia-Negative Chronic Myeloid Leukemia, Bone Marrow Aspiration, and Bone Marrow Transplant. Dr. Mawad is currently accepting new patients.
Vanderbilt Health Clinicians, LLC
Olalekan Oluwole is a Hematologist Oncology specialist and a Hematologist in Spring Hill, Tennessee. Dr. Oluwole is rated as an Advanced provider by MediFind in the treatment of Triosephosphate Isomerase Deficiency. His top areas of expertise are Burkitt Lymphoma, Chronic Lymphocytic Leukemia (CLL), Non-Hodgkin Lymphoma, Acute Myeloblastic Leukemia without Maturation, and Bone Marrow Aspiration. Dr. Oluwole is currently accepting new patients.
Carle Health Care Incorporated
James Egner is a Hematologist Oncology specialist and an Oncologist in Urbana, Illinois. Dr. Egner is rated as an Advanced provider by MediFind in the treatment of Triosephosphate Isomerase Deficiency. His top areas of expertise are Blood Clots, Monoclonal Gammopathy of Undetermined Significance (MGUS), Lung Adenocarcinoma, and Angiosarcoma.
Published Date: August 01, 2014
Published By: National Institutes of Health
There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.