Triosephosphate isomerase deficiency

Triosephosphate isomerase deficiency
Other namesTriose phosphate-isomerase deficiency [1]
Triosephosphate isomerase deficiency has an autosomal recessive pattern of inheritance.
SpecialtyHematology Edit this on Wikidata

Triosephosphate isomerase deficiency is a rare autosomal recessive[2] metabolic disorder which was initially described in 1965.[3]

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.[4] The disease is exceptionally rare with fewer than 100 patients diagnosed worldwide.

  1. ^ "Triosephosphate isomerase deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 30 January 2022. Retrieved 11 April 2019.
  2. ^ Cite error: The named reference Ralser_et_al_2006 was invoked but never defined (see the help page).
  3. ^ Schneider, Arthur S.; William N. Valentine; Hattori M; H. L. Heins Jr (1965). "Hereditary Hemolytic Anemia with Triosephosphate Isomerase Deficiency". New England Journal of Medicine. 272 (5): 229–235. doi:10.1056/NEJM196502042720503. PMID 14242501.
  4. ^ Schneider, Arthur S. (Mar 2000). "Triosephosphate isomerase deficiency: historical perspectives and molecular aspects". Best Practice & Research Clinical Haematology. 13 (1): 119–140. doi:10.1053/beha.2000.0061. PMID 10916682.