You are here: Home / Rare Disease Information / Patient Organizations Database

Search Patient Organizations

Enter organization name or disease name to search for organizations that help people with rare diseases.

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

**IMPORTANT**

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

Address

3 Duncombe Close
Bramhall
Cheshire, SK7 3DD
United Kingdom

Phone

004-416-14393146

Fax

--

800 Number

--

TDD

--

Email Address

tpi.trust@tpitrust.com

Website

http://www.tpitrust.com

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.

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.

 
Copyright ©2014 NORD - National Organization for Rare Disorders, Inc. All rights reserved.
The following trademarks/registered service marks are owned by NORD: NORD, National Organization for Rare Disorders, the NORD logo, RareConnect. .