The information contained in the Organizational Database (ODB) is provided for informational purposes only. There is no implied endorsement by NORD. NORD does not promote or endorse participation in any specific organization. The information is subject to change without notice. Every effort is made to ensure that the details for each entry are as current as possible.
James Stewardson Research and Welfare Trust for Children with TPI (Triose Phosphate Isomerase) Deficiency
3 Duncombe Close
Cheshire, SK7 3DD
The James Stewardson Research and Welfare Trust for Children with TPI (Triose Phosphate Isomerase) Deficiency is a charity in the United Kingdom that was established in 1994 by the family of a young boy with triose phosphate isomerase deficiency. TPI deficiency is an extremely rare inborn error of metabolism characterized by deficiency of the enzyme triose phosphate isomerase. Associated symptoms and findings, which typically become apparent between six months and two years of age, include premature destruction of red blood cells (hemolytic anemia); increased susceptibility to infections; progressive impairment of certain brain functions, although intellect is typically unaffected; and progressive neuromuscular dysfunction including loss of previously acquired motor skills, impaired muscle control, muscle rigidity, fixed postures, and muscle spasms. TPI deficiency is inherited as an autosomal recessive genetic trait. The James Stewardson TPI Trust is dedicated to locating and making contact with affected families across the globe; working with researchers who are dedicated to locating and characterizing the gene responsible for TPI deficiency; and promoting additional, ongoing research to learn more about the disorder, its effects, and possible treatments such as enzyme replacement or gene therapy.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and that credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions are strictly prohibited.
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.