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
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adenine
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Amino Acid Sequence
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Anemia, Hemolytic, Congenital Nonspherocytic / enzymology
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Anemia, Hemolytic, Congenital Nonspherocytic / genetics*
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Arginine / genetics
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Base Sequence
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Child
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Chronic Disease
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Genetic Linkage
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Glucosephosphate Dehydrogenase / genetics*
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Guanine
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Humans
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Lysine / genetics
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Male
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Point Mutation / genetics*
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Sequence Analysis, DNA
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X Chromosome / genetics
Substances
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Guanine
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Arginine
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Glucosephosphate Dehydrogenase
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Adenine
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Lysine