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Exercise‐induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency
Author(s) -
Oh Shin J.,
Park KyungSeok,
Ryan Hewitt F.,
Da Moris J.,
Lu Jiesheng,
Naini Ali B.,
DiMauro Salvatore
Publication year - 2006
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20622
Subject(s) - myoglobinuria , phosphoglycerate mutase , medicine , muscle cramp , endocrinology , chemistry , glycolysis , rhabdomyolysis , metabolism
We report two patients in whom phosphoglycerate mutase (PGAM) deficiency was associated with the triad of exercise‐induced cramps, recurrent myoglobinuria, and tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels were elevated between attacks of myoglobinuria. Forearm ischemic exercise tests produced subnormal increases of venous lactate. Muscle biopsies showed subsarcolemmal tubular aggregates in type 2 fibers. Muscle PGAM activities were markedly decreased (3% of the normal mean) and molecular genetic studies showed that both patients were homozygous for a described missense mutation (W78X). A review of 15 cases with tubular aggregates in the muscle biopsies from our laboratory and 15 cases with PGAM deficiency described in the literature showed that this clinicopathological triad is highly suggestive of PGAM deficiency. Muscle Nerve, 2006