A variant glucose-6-phosphate dehydrogenase Gd(-) Chiapas associated with moderate enzyme deficiency and occasional hemolytic anemia |
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Authors: | Rubén Lisker Rocio Pérez Briceno Lydia Agrilar Akira Yoshida |
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Institution: | (1) Department of Genetics, Institute of Nutrition, Mexico D. F., Mexico;(2) Department of Biochemical Genetics, City of Hope Medical Center, Duarte, California, USA |
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Abstract: | Summary Erythrocyte glucose-6-phosphate deficiency is an X-chromosomal-linked hereditary trait often associated with hemolytic anemia. This report defines a new variant designated as Gd(-) Chiapas, which was found in a subject with occasional hemolytic jaundice. The red cell enzyme activity of the subject is about 15% of normal. The variant enzyme is thermolabile in vitro and has faster-than-normal anodal electrophoretic mobility and stronger-than-normal substrate affinity. The patient's hemolytic problem might be correlated with instability of the variant enzyme under physiologic stress.This study was supported in part by the US Public Health Service Grant HL-15125. |
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