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Triosephosphate Isomerase Deficiency

Abstract

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NORD is very grateful to Barry Ganetzky, PhD, Professor of Genetics and Medical Sciences, Steenbock Professor of Biological Sciences, University of Wisconsin, for assistance in creating this report.

Synonyms of Triosephosphate Isomerase Deficiency

Disorder Subdivisions

No subdivisions found.

General Discussion

Triosephosphate isomerase (TPI) deficiency is a rare genetic multisystem disorder. It is characterized by lack or reduced activity of the enzyme triosephosphate isomerase, an enzyme necessary for the breakdown (metabolism) of certain sugars in the body. Affected individuals experience low levels of circulating red blood cells due to premature destruction of red blood cells (hemolytic anemia) and severe, progressive neurological symptoms. Specific symptoms vary from case to case. Intellectual disability is a variable finding. Additional symptoms may develop including disease of the heart muscle (cardiomyopathy) and a susceptibility to developing chronic infections. Affected individuals usually develop life-threatening complications early during childhood. TPI deficiency is inherited as an autosomal recessive trait.

Organizations related to Triosephosphate Isomerase Deficiency

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