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Triose phosphate-isomerase deficiency

Disease definition

Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

ORPHA:868

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: D55.2
  • OMIM: 615512
  • UMLS: C0398562
  • MeSH: -
  • GARD: 5287
  • MedDRA: -

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