Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia.
A discussion of a 5-year-old child with congenital hemolytic anemia and severe hypotonia caused by triosephosphate (TPI) deficiency is presented. The complexities in the diagnosis and management of this condition is discussed and the relevant literature is reviewed.
Linarello
R E
RE
Department of Pediatrics, LSU School of Medicine, New Oreleans 70112, USA.
Shetty
A K
AK
Thomas
T
T
Warrier
R P
RP
D000745:Anemia, Hemolytic, Congenital / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007022:Hypotension / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology*; D017354:Point Mutation; D014305:Triose-Phosphate Isomerase / Q000172:deficiency / Q000235:genetics*
D014305:Triose-Phosphate Isomerase