Triosephosphate isomerase deficiency

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

Genetics

There are several known mutations that lead to disease. We are especially famous mutations Cys41Tyr, Glu104Asp, Gly122Arg and Phe240Leu; where Glu104Asp dominated and also the only mutation that has occurred so far homozygous. This mutation alters the dimerization of TPI (literature: Ralser et al, 2006. ). Interestingly, going all patients who suffer from the most common form of TPI deficiency ( TPI Glu104Asp ), to a single founder back, which must have lived in present-day England or France more than 1000 years ago. (see also founder effect)

Therapy

Approved specific therapies for triosephosphate isomerase deficiency, there is currently no. At a patient's enzyme replacement therapy has been tested with limited success.

History

The disease triosephosphate isomerase deficiency was first described in 1965 by Arthur Schneider and his staff, she was discovered at the intensive study of a family with hereditary hemolytic anemia

Swell

• M. Ralser among other things: the triose phosphate isomerase Deficiency Is Caused by Altered Dimerization -Not Catalytic Inactivity - of the Mutant Enzymes. In: PLoS ONE 1, 2006, pp. e30. PMID 17183658
• M. Ralser include: Sequencing and genotypic analysis of the triosephosphate isomerase ( TPl1 ) locus in a large sample of long -lived Germans. In: BMC Genet 9, 2008, p 38 PMID 18,510,744