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G6PD-Puerto Limón: a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia.

Abstract
A new glucose-6-phosphate dehydrogenase (G6PD) variant with total deficiency associated with congenital nonspherocytic hemolytic anemia was found in a Costa Rican family. The study of the partially purified enzyme revealed thermal instability, increased G6P affinity, abnormal pH optimum, increased utilization of analogues, and a chromatographic behavior that differs from all the variants previously described. Thus, this new variant was designated G6PD Puerto Limón.
AuthorsJ Elizondo, G F Sáenz, C A Páez, M Ramón, M García, A Gutiérrez, M Estrada
JournalHuman genetics (Hum Genet) Vol. 62 Issue 2 Pg. 110-2 ( 1982) ISSN: 0340-6717 [Print] Germany
PMID7160841 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Glucosephosphate Dehydrogenase
Topics
  • Adult
  • Anemia, Hemolytic, Congenital (genetics)
  • Anemia, Hemolytic, Congenital Nonspherocytic (genetics)
  • Costa Rica
  • Electrophoresis, Starch Gel
  • Genetic Variation
  • Glucosephosphate Dehydrogenase (genetics)
  • Glucosephosphate Dehydrogenase Deficiency (genetics)
  • Humans
  • Male

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