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Thiamine responsive anemia: report of a new case associated with a thiamine pyrophosphokinase deficiency
J Grill1, T Leblanc, A Baruchel
1Unité d'Hématologie Pédiatrique, Hôpital Saint Louis, Paris, France.
Nouvelle Revue Francaise D'Hematologie
|January 1, 1991
Abstract:
We report a new case of thiamine responsive anemia in a three years old boy with the characteristic association of anemia, diabetes mellitus and deafness. Thiamine therapy corrected anemia as described. A thiamine pyrophosphokinase deficiency (TPK) was found which was not influenced by treatment. However normal levels of thiamine pyrophosphate (TPP) were obtained without correction of all symptoms particularly dyserythropoïesis. Thus, etiology of the syndrome is not only a thiamine pyrophosphokinase deficiency as previously suggested.