Child Neurology: Triosephosphate isomerase deficiency

Triosephosphate isomerase (TPI) deficiency is a rare autosomal recessive disease of infancy and childhood classified as a glycolytic enzymopathy. Clinical features include hemolytic anemia, progressive neuromuscular dysfunction, and increased susceptibility to infection with specific pathogenic variants resulting in severe disease and death by age 8. Since initially described in 1965,1 fewer than 50 clinically affected patients have been described in the literature. We describe a 20-year-old patient with a severe pathogenic variant in the TPI gene who has outlived all reported cases, residing in a long-term care facility for most of her life with aggressive medical interventions.