Haematologica
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Haematologica, Vol 90, Issue 2, 257-259
Copyright © 2005 by Ferrata Storti Foundation

Case Reports

Phosphoglycerate mutase BB isoenzyme deficiency in a patient with non-spherocytic anemia: familial and metabolic studies

A Repiso, MJ Ramirez Bajo, JL Corrons, J Carreras, and F Climent

We previously reported the first case of red blood cell phosphoglycerate mutase (PGAM) isozyme BB deficiency due to the homozygous point mutation cDNA 690G->A, which causes a substitution of methionine 230 by isoleucine. In the present work we analyzed the changes in glycolytic intermediates caused by this mutation. With the exception of hexose phosphates, all other intermediates were decreased. In contrast, lactate levels were increased. The methionine 230 isoleucine change did not alter the mutated PGAM levels.




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Copyright © 2005 by the Ferrata Storti Foundation.