Deficiency of triosephosphate isomerase. Apropos of 2 new cases
Delso Martínez, M.C.; Uriel Miñana, P.; Pérez Lugmus, G.; Giménez Mas, J.A.; Baldellou Vázquez, A.
Anales Espanoles de Pediatria 19(2): 123-127
1983
ISSN/ISBN: 0302-4342 PMID: 6660640 Document Number: 220237
Two siblings, born of a no consanguineous couple, a female and a male, affected by a severe and progressive neurological disease and chronic hemolytic anemia are presented. Their clinical, hematological, biochemical and pathological studies are discussed. One of the patients showed a triosephosphate isomerase deficiency and the carrier condition of their parents was tested. Commentaries about physiopathology of this disease are made.