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Muscle phosphoglycerate mutase (PGAM) deficiency in the first Caucasian patient: biochemistry, muscle culture and31P-MR spectroscopy

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Abstract

Muscle phosphoglycerate mutase (PGAM) deficiency has been so far identified in only six patients, five of these being African Americans. We report the results of clinical, morphological, biochemical, muscle culture and31P-MR spectroscopy studies in the first Caucasian patient with muscle PGAM deficiency. A 23-year-old man had a 10-year history of cramps after physical exertion with one episode of pigmenturia. Neurological examination and EMG study were normal. ECG and echocardiography revealed hypertrophy of the interventricular septum and slight dilatation of the left chambers of the heart. Muscle biopsy revealed increased glycogen content and some accumulation of mitochondria. Muscle PGAM activity was markedly decreased (6.5% and 9.7% of control value in two different biopsies). Citrate synthase and other mitochondrial respiratory chain enzyme activities were much higher than normal. In contrast to the marked decrease of PGAM activity observed in muscle biopsy, total enzyme activity in the patient's aneural muscle culture was normal, being represented exclusively by BB isoenzyme. The deficiency of PGAM-MM isoenzyme was reproduced in the patient's innervated muscle culture. Muscle31P-MR spectroscopy showed accumulation of phosphomonoesters only on fast “glycolytic” exercise. On “aerobic” exercise, Vmax, calculated from the work-energy cost transfer function, showed an increase consistent with the morphological and biochemical evidence of mitochondrial proliferation. This might represent a sort of compensatory aerobic effort in an attempt to restore muscle power.

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Authors and Affiliations

  1. Istituto di Scienze Neurologiche e Neurochirurgiche, Università di Messina, Messina, Italy

    G. Vita, A. Toscano, A. Baradello & C. Messina

  2. Istituto di Clinica Neurologica, Centro Dino Ferrari, Università di Milano, Milan, Italy

    N. Bresolin & F. Fortunato

  3. Istituto di Scienze Medico-Chirurgiche, II Divisione di Neurologia, Ospedale Clinicizzato San Donato, Università di Milano, Milan, Italy

    G. Meola

  4. Cattedra di Biochimica Clinica, Università di Bologna, Bologna, Italy

    B. Barbiroli

  5. Istituto di Chimica Biologica, Università di Modena, Modena, Italy

    C. Frassineti

  6. Istituto di Radiologia, Università di Modena, Modena, Italy

    P. Zaniol

  7. Clinica Neurologica 2, Policlinico Universitario, 98125, Messina, Italy

    G. Vita

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  1. G. Vita
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  2. A. Toscano
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  3. N. Bresolin
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  4. G. Meola
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  7. B. Barbiroli
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  9. P. Zaniol
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  10. C. Messina
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Vita, G., Toscano, A., Bresolin, N. et al. Muscle phosphoglycerate mutase (PGAM) deficiency in the first Caucasian patient: biochemistry, muscle culture and31P-MR spectroscopy. J Neurol 241, 289–294 (1994). https://doi.org/10.1007/BF00868435

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  • DOI: https://doi.org/10.1007/BF00868435

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