Triosephosphate isomerase deficiency

（重定向自Triose Phosphate Isomerase deficiency）

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

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

单词	Triose Phosphate Isomerase deficiency
释义	Triose Phosphate Isomerase deficiency 英语百科 Triosephosphate isomerase deficiency （重定向自Triose Phosphate Isomerase deficiency） Triosephosphate isomerase deficiency is a rare autosomal recessive metabolic disorder which was initially described in 1965. 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. The disease is exceptionally rare with fewer than 100 patients diagnosed worldwide.
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