Triosephosphate Isomerase DeficiencySymptoms, Doctors, Treatments, Advances & More
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.
8 Medical Plaza Care Center
Uma Gowda is an Oncologist practicing medicine in Roseville, California. Dr. Gowda is rated as an Advanced provider by MediFind in the treatment of Triosephosphate Isomerase Deficiency. He is also highly rated in 29 other conditions, according to our data. His clinical expertise encompasses Non-Hodgkin Lymphoma, Autoimmune Hemolytic Anemia, Childhood Iron Deficiency Anemia, and Familial Prostate Cancer. Dr. Gowda is board certified in Medical Oncology - Board Certified and Hematology - Board Certified. Dr. Gowda is currently accepting new patients.
Christiana Care Health Services Inc
Ammar Alzoubi is a Hematologist practicing medicine in Newark, Delaware. Dr. Alzoubi is rated as an Advanced provider by MediFind in the treatment of Triosephosphate Isomerase Deficiency. He is also highly rated in 57 other conditions, according to our data. His clinical expertise encompasses Chronic Lymphocytic Leukemia (CLL), Richter Syndrome, Chronic B-Cell Leukemia (CBCL), Bone Marrow Aspiration, and Bone Marrow Transplant.
Center For Blood Disorders And Stem Cell Transplantation
Raya Mawad is an Oncologist practicing medicine in Seattle, Washington. Dr. Mawad is rated as an Advanced provider by MediFind in the treatment of Triosephosphate Isomerase Deficiency. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Acute Myeloid Leukemia (AML), Acute Myeloblastic Leukemia without Maturation, Philadelphia-Negative Chronic Myeloid Leukemia, Bone Marrow Aspiration, and Bone Marrow Transplant.
Published Date: August 01, 2014
Published By: National Institutes of Health
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