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Triosephosphate isomerase deficiency

Field	Value
name	Triosephosphate isomerase deficiency
synonyms	Triose phosphate-isomerase deficiency
image	Autosomal recessive - en.svg
caption	Triosephosphate isomerase deficiency has an autosomal recessive pattern of inheritance.

Triosephosphate isomerase deficiency is a rare autosomal recessive

It is a unique glycolytic enzymopathy that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections, severe neurological dysfunction, and, in most cases, death in early childhood. The disease is exceptionally rare with fewer than 100 patients diagnosed worldwide.

Genetics

Thirteen different mutations in the respective gene, which is located at chromosome 12p13 and encodes the ubiquitous housekeeping enzyme triosephosphate isomerase (TPI), have been discovered so far. This might explain why the disease is rare, but inactive TPI alleles have been detected at higher frequency implicating a heterozygote advantage of inactive TPI alleles.

The most common mutation causing TPI deficiency is TPI Glu104Asp. All carriers of the mutation are descendants of a common ancestor, a person that lived in what is today France or England more than 1000 years ago.

References

"Triosephosphate isomerase deficiency {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
(1965). "Hereditary Hemolytic Anemia with Triosephosphate Isomerase Deficiency". New England Journal of Medicine.
Schneider, Arthur S.. (Mar 2000). "Triosephosphate isomerase deficiency: historical perspectives and molecular aspects". Best Practice & Research Clinical Haematology.
(December 20, 2006). "Triose Phosphate Isomerase Deficiency Is Caused by Altered Dimerization–Not Catalytic Inactivity–of the Mutant Enzymes". PLOS ONE.
(1996). "The 1591C mutation in triosephosphate isomerase (TPI) deficiency. Tightly linked polymorphisms and a common haplotype in all known families". Blood Cells Mol. Dis..

Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

hereditary-hemolytic-anemias autosomal-recessive-disorders inborn-errors-of-carbohydrate-metabolism rare-diseases

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