Triose phosphate-isomerase deficiency

Common Name(s)

Triose phosphate-isomerase deficiency

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Triose phosphate-isomerase deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Triose phosphate-isomerase deficiency" returned 5 free, full-text research articles on human participants. First 3 results:

Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency.
 

Author(s): Nazan Sarper, Emine Zengin, Cornelis Jakobs, Gajja S Salomons, Mirjam Mc Wamelink, Markus Ralser, Koray Kurt, Bülent Kara

Journal: Turk. J. Pediatr.. ;55(2):198-202.

 

A two-month-old male infant presented with jaundice, pallor, and hepatomegaly. The first child of non-consanguineous parents had also suffered from hemolytic anemia and neuromotor retardation and died at the age of 21 months. The patient required phototherapy and transfusion in the ...

Last Updated: 6 Nov 2013

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Triose phosphate isomerase deficiency is caused by altered dimerization--not catalytic inactivity--of the mutant enzymes.
 

Author(s): Markus Ralser, Gino Heeren, Michael Breitenbach, Hans Lehrach, Sylvia Krobitsch

Journal:

 

Triosephosphate isomerase (TPI) deficiency is an autosomal recessive disorder caused by various mutations in the gene encoding the key glycolytic enzyme TPI. A drastic decrease in TPI activity and an increased level of its substrate, dihydroxyacetone phosphate, have been measured ...

Last Updated: 8 Jan 2007

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Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris).
 

Author(s): C Valentin, S Pissard, J Martin, D Héron, P Labrune, M O Livet, M Mayer, T Gelbart, A Schneider, I Max-Audit, M Cohen-Solal

Journal: Blood. 2000 Aug;96(3):1130-5.

 

Three French families with triose phosphate isomerase (TPI) deficiency were studied, and 2 new mutations giving rise to null alleles were observed: a frameshift mutation with deletion of the 86-87 TG dinucleotide in codon 29 (TPI Alfortville) and a T-->A transversion in nucleotide ...

Last Updated: 24 Aug 2000

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Triose phosphate-isomerase deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.