Glucose-6-phosphate dehydrogenase Porbandar: a new slow variant with slightly reduced activity in a South African family of Indian descent

Biochem Genet. 1977 Aug;15(7-8):765-73. doi: 10.1007/BF00484102.

Abstract

A new variant of the red cell enzyme glucose-6-phosphate dehydrogenase has been detected in a South African male of Indian descent and in several of his relatives. The enzyme variant is characterized by slow electrophoretic mobility, low Michaelis constants for the substrates glucose-6-phosphate and NADP, and increased utilization of the substrate analogues 2-deoxyglucose-6-phosphate and deamino-NADP relative to the normal (B+) enzyme. There is no evidence that the enzyme variant, for which the name "G6PD Porbandar" is suggested, is associated with any hematological abnormality.

Publication types

  • Case Reports

MeSH terms

  • Anemia / genetics
  • Child
  • Erythrocytes / enzymology
  • Genes*
  • Genetic Variation*
  • Glucosephosphate Dehydrogenase / genetics*
  • Glucosephosphate Dehydrogenase / metabolism
  • Glucosephosphates / metabolism
  • Humans
  • India / ethnology
  • Kinetics
  • Male
  • Pedigree
  • South Africa

Substances

  • Glucosephosphates
  • Glucosephosphate Dehydrogenase