Glucose-6-phosphate dehydrogenase Durham: a de novo mutation associated with chronic hemolytic anemia

J Pediatr. 1997 Aug;131(2):284-7. doi: 10.1016/s0022-3476(97)70167-7.

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme defect. We report a new variant, G6PD Durham713G, that is associated with chronic nonspherocytic hemolytic anemia. The G6PD Durham713G variant has a unique biochemical and enzymatic profile and a novel A-->G substitution mutation at nucleotide 713, changing lysine to arginine at amino acid 238. This mutation was not found in the mother of our patient, indicating that G6PD Durham713G resulted from a de novo mutation.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenine
  • Amino Acid Sequence
  • Anemia, Hemolytic, Congenital Nonspherocytic / enzymology
  • Anemia, Hemolytic, Congenital Nonspherocytic / genetics*
  • Arginine / genetics
  • Base Sequence
  • Child
  • Chronic Disease
  • Genetic Linkage
  • Glucosephosphate Dehydrogenase / genetics*
  • Guanine
  • Humans
  • Lysine / genetics
  • Male
  • Point Mutation / genetics*
  • Sequence Analysis, DNA
  • X Chromosome / genetics

Substances

  • Guanine
  • Arginine
  • Glucosephosphate Dehydrogenase
  • Adenine
  • Lysine