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Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994
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Article Abstract
Ten adult patients complained of exercise intolerance;five of them had cramps and three had recurrent myoglobinuria.Resting serum CK was increased in five.Muscle biopsies showed phosphorylase b kinase(PbK) deficiency,whereas the activities of other enzymes of carbohydrate metabolism were normal.None of the patients exhibited symptoms indicative of liver PbK deficiency.Thus,these patients are new additions to a class of PbK glycogen storage disease characterized by enzyme deficiency in muscle but not liver.Family histories were consistent with autosomal recessive transmission.Monoclonal antibodies specific for the B and y subunits of PbK cross-reacted differentially with muscle biopsies from three of these patients,suggesting that this phenotype of PbK deficiency is biochemically heterogeneous.
 
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creatine phosphokinase(CPK)elevated
enzyme,defect
enzyme,muscle disease
exercise
exercise intolerance
familial
glycogen storage disease
ischemic exercise test
muscle biopsy
muscle cramp
muscle pain
muscle phosphorylase deficiency
muscle weakness
myoglobinuria
phosphorylase b kinase deficiency
weakness

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