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Muscle glucose-6-phosphate dehydrogenase deficiency.

Abstract：

:Muscle glucose-6-phosphate dehydrogenase (G6PD) deficiency is described in four clinically heterogeneous patients: an athlete who developed myoglobinuria after physical exercise; a 7-year-old, mildly mentally retarded boy, who had episodes of dark urine and high creatine kinase; and two brothers of Sardinian origin, the elder showing moderate exercise intolerance. Histochemical and biochemical studies showed a lack of G6PD activity in muscle biopsy specimens as well as in erythrocytes. G6PD characterization in erythrocytes classified these mutant enzymes as Mediterranean variant in all the patients. The deficiency was confirmed in the patients' myotubes and skin fibroblasts, where residual activity was present. Electrophoretic studies in tissue culture extracts showed that the residual muscle enzyme migrated as a single electrophoretic band like normal human muscle G6PD.

journal_name

J Neurol

journal_title

Journal of neurology

authors

Bresolin N,Bet L,Moggio M,Meola G,Fortunato F,Comi G,Adobbati L,Geremia L,Pittalis S,Scarlato G

doi

10.1007/BF00314498

subject

Has Abstract

pub_date

1989-05-01 00:00:00

pages

193-8

issue

4

eissn

0340-5354

issn

1432-1459

journal_volume

236

pub_type

杂志文章

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