Triosephosphate Isomerase Deficiency (TPID)

Triosephosphate Isomerase Deficiency (TPID)

OMIM number: 615512

Comments closing date: 04/09/2024

TPI deficiency is an extremely rare, autosomal
recessive form of congenital haemolytic anaemia
and progressive neuromuscular dysfunction
beginning in early childhood. Many patients die
from respiratory failure in childhood. TPI deficiency
is caused by enzyme triosephosphate isomerase
deficiency. Prevalence of TPI deficiency is
unknown and less than 50 cases have been
reported in the literature.

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