Bética variant of Glucose-6–phosphate dehydrogenase: case report

Authors

  • Anabela Pinto Serviço de Medicina 3 do Hospital de Santo António dos Capuchos, Lisboa
  • Madalena Dias Serviço de Medicina 3 do Hospital de Santo António dos Capuchos, Lisboa
  • Eugénio Teófilo Serviço de Medicina 3 do Hospital de Santo António dos Capuchos, Lisboa
  • Vitor Brotas Serviço de Medicina 3 do Hospital de Santo António dos Capuchos, Lisboa
  • M. Ermelinda Pereira Serviço de Medicina 3 do Hospital de Santo António dos Capuchos, Lisboa

Keywords:

Glucose-6 – phosphate dehydrogenase, betica variant, favism

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) defi ciency is probably the most common clinically signifi cant mutation in the world
but there is a low prevalence in Portugal (about 0, 51%).
G6PD catalyses the fi rst step in the pentose phosphate pathway.
This enzyme is expressed in all tissues but its defi ciency is noted
only in erythrocytes when exposed to oxidative stress conducive
to hemolysis. About 400 variants have been described.
The authors report the case of a female patient that has a Betica variant of G6PD.

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References

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Additional Files

Published

2006-03-31

How to Cite

1.
Pinto A, Dias M, Teófilo E, Brotas V, Pereira ME. Bética variant of Glucose-6–phosphate dehydrogenase: case report. RPMI [Internet]. 2006 Mar. 31 [cited 2024 May 18];13(1):28-32. Available from: https://revista.spmi.pt/index.php/rpmi/article/view/1619

Issue

Vol. 13 No. 1 (2006): Janeiro/ Março

Section

Case Reports

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