Triosephosphate isomerase deficiency

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Classification according to ICD-10
D55.2 Anemia due to disorders of glycolytic enzymes
- triose phosphate isomerase deficiency
ICD-10 online (WHO version 2019)

Triose phosphate isomerase deficiency is an autosomal recessive inherited metabolic disorder triggered by mutations in the gene that codes for the enzyme triose phosphate isomerase (TPI). In most cases it leads to the death of the affected individuals in childhood, usually haemolytic anemia and severe neurological damage occurs.

genetics

Several mutations are known that lead to the disease. The mutations Cys41Tyr, Glu104Asp, Gly122Arg and Phe240Leu are particularly known; where Glu104Asp dominates and is also the only mutation that has so far occurred homozygously . This mutation changes the dimerization behavior of the TPI. Interestingly, all patients suffering from the most common form of TPI deficiency (TPI Glu104Asp) go back to a single founder who must have lived in what is now England or France more than 1000 years ago. (see also founder effect )

therapy

There are currently no approved specific therapies for triosephosphate isomerase deficiency. Enzyme replacement therapy was tested on one patient with moderate success.

history

The disease triose phosphate isomerase deficiency was first described in 1965 by Arthur Schneider and his colleagues; it was discovered during an intensive study of a family with hereditary haemolytic anemia.

swell

  • M. Ralser et al .: Triose Phosphate Isomerase Deficiency Is Caused by Altered Dimerization – Not Catalytic Inactivity – of the Mutant Enzymes. In: PLoS ONE. 1, 2006, p. E30. PMID 17183658
  • M. Ralser et al .: Sequencing and genotypic analysis of the triosephosphate isomerase (TPI1) locus in a large sample of long-lived Germans. In: BMC Genet. 9, 2008, p. 38. PMID 18510744

Individual evidence

  1. ↑ M. Ralser et al .: Triose Phosphate Isomerase Deficiency Is Caused by Altered Dimerization - Not Catalytic Inactivity - of the Mutant Enzymes. In: PLoS ONE. 1, 2006, p. E30. PMID 17183658
  2. ↑ A. Schneider et al .: The 1591C mutation in triosephosphate isomerase (TPI) deficiency. Tightly linked polymorphisms and a common haplotype in all known families . In: Blood Cells Mol Dis. 1996; 22 (2), pp. 115-125.
  3. ^ AS Schneider, WN Valentine, M. Hattori, HL Heins: Hereditary hemolytic anemia with triosephosphate isomerase deficiency . In: New England Journal of Medicine. 1965; 272, pp. 229-235.

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