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Hypogammaglobulinemia in McArdle myopathy (glycogenosis type V). 1991

M E Westarp, and V Schreiner, and H H Kornhuber
Ulm University, Department of Neurology, Federal Republic of Germany.

Glycogenosis type V (McArdle) was the first myopathy to be enzymatically defined myopathy and has been found in approximately 120 patients. It is characterized by a myophosphorylase defect. In 2 patients with completely missing phosphorylase activity, muscle fiber necrosis and creatinine kinase elevation, we found reproducibly low gammaglobulins and low immunoglobulin-G. Compared with 124 nonmyopathic control patients with hypogammaglobulinemia, we did not find any established cause for low gammaglobulins in either case of McArdle disease. Myopathies with selected laboratory features or histopathology in common did not show changes in gammaglobulins or immunoglobulins. Unaffected family members had normal gamma-globulins and immunoglobulins. Therefore, gammaglobulins indicate an immunologic involvement in phosphorylase deficiency, and a potential for genomic co-localization.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009212 Myoglobinuria The presence of MYOGLOBIN in URINE usually as a result of rhabdomyolysis. Myoglobinurias
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D004576 Electromyography Recording of the changes in electric potential of muscle by means of surface or needle electrodes. Electromyogram,Surface Electromyography,Electromyograms,Electromyographies,Electromyographies, Surface,Electromyography, Surface,Surface Electromyographies
D005260 Female Females
D006005 Phosphorylases A class of glucosyltransferases that catalyzes the degradation of storage polysaccharides, such as glucose polymers, by phosphorolysis in animals (GLYCOGEN PHOSPHORYLASE) and in plants (STARCH PHOSPHORYLASE). Glucan Phosphorylase,Phosphorylase,alpha-Glucan Phosphorylases
D006012 Glycogen Storage Disease Type V Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise. Glycogenosis 5,McArdle's Disease,Deficiency, Muscle Phosphorylase,Glycogen Storage Disease Type 5,Glycogen Storage Disease V,McArdle Disease,McArdle Type Glycogen Storage Disease,Mcardle Syndrome,Muscle Glycogen Phosphorylase Deficiency,Muscle Phosphorylase Deficiency,Myophosphorylase deficiency,PYGM Deficiency,Deficiencies, Muscle Phosphorylase,Deficiencies, PYGM,Deficiency, PYGM,Disease, McArdle,Disease, McArdle's,Glycogenosis 5s,McArdles Disease,Mcardle Syndromes,Muscle Phosphorylase Deficiencies,Myophosphorylase deficiencies,PYGM Deficiencies,Phosphorylase Deficiencies, Muscle,Phosphorylase Deficiency, Muscle,Syndrome, Mcardle,Syndromes, Mcardle,deficiencies, Myophosphorylase,deficiency, Myophosphorylase
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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