Glucose-6-phosphate dehydrogenase Beaumont: a new variant with severe enzyme deficiency and chronic nonspherocytic hemolytic anemia

R. J. Mamlok, G. C. Mills, R. M. Goldblum, C. W. Daeschner

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Studies were carried out on erythrocytes and fibroblasts from a 3-year-old white male with severe glucose-6-phosphate dehydrogenase (G6PD) deficiency and chronic nonspherocytic hemolytic anemia. Red blood cell G6PD activity was less than 0.02% of normal values. Since the child's fibroblasts had 2-4% of normal enzymic activity, they were utilized as a source of enzyme for kinetic studies. The G6PD demonstrated marked heat lability, a normal K(m) value for glucose-6-phosphate (56 μmol/l), a nearly normal pH-activity curve, and increased utilization of 2-deoxyglucose-6-phosphate (76% of the rate with glucose-6-phosphate). These studies clearly indicate that this is a new molecular variant (G6PD Beaumont).

Original languageEnglish (US)
Pages (from-to)15-21
Number of pages7
JournalEnzyme
Volume34
Issue number1
StatePublished - 1985

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Glucosephosphate Dehydrogenase
Hemolytic Anemia
Glucose-6-Phosphate
Enzymes
Fibroblasts
Erythrocytes
Glucosephosphate Dehydrogenase Deficiency
Blood Glucose
Reference Values
Hot Temperature
Blood
Cells
Kinetics

ASJC Scopus subject areas

  • Biochemistry

Cite this

Glucose-6-phosphate dehydrogenase Beaumont : a new variant with severe enzyme deficiency and chronic nonspherocytic hemolytic anemia. / Mamlok, R. J.; Mills, G. C.; Goldblum, R. M.; Daeschner, C. W.

In: Enzyme, Vol. 34, No. 1, 1985, p. 15-21.

Research output: Contribution to journalArticle

Mamlok, R. J. ; Mills, G. C. ; Goldblum, R. M. ; Daeschner, C. W. / Glucose-6-phosphate dehydrogenase Beaumont : a new variant with severe enzyme deficiency and chronic nonspherocytic hemolytic anemia. In: Enzyme. 1985 ; Vol. 34, No. 1. pp. 15-21.
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