Triosephosphate isomerase deficiency
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Triosephosphate isomerase deficiency is a rare autosomal recessive[2] metabolic disorder which was initially described in 1965.[3]
Quick Facts Other names, Specialty ...
Triosephosphate isomerase deficiency | |
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Other names | Triose phosphate-isomerase deficiency [1] |
Triosephosphate isomerase deficiency has an autosomal recessive pattern of inheritance. | |
Specialty | Hematology |
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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.