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Familial paroxysmal rhabdomyolysis in children

A myoglobinuric syndrome
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      Abstract

      A study is presented of a family in which three male members have had spontaneous rhabdomyolysis and myoglobinuria. Increased phosphorylase activity in the skeletal muscle of one child and his mother, and in the leukocytes of another affected child, was found. These findings are discussed and comments are made on rhabdomyolysis and myoglobinuria in general.
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      References

        • Bowden D.H.
        • Goyer R.A.
        The size of muscle fibers in infants and children.
        Arch. Path. 1960; 69: 188
        • Berman M.C.
        • Kench J.E.
        Separation of myoglobin and haemoglobin on a column of dextran gel.
        J. Clin. Path. 1963; 16: 385
        • Hers H.G.
        Studies enzymatiques sur fragments hepatiques, application a la classification des glycogenoses.
        Rev. Internat. d'Hepat. 1959; 9: 35
        • Cori G.T.
        • Illingworth B.
        • Keller T.
        3rd ed. Methods in Enzymology Muscle Phosphorylase. vol. 1. Academic Press, Inc, New York1957: 200
        • Dawson D.M.
        • Romanul F.C.A.
        Enzymes in muscle.
        Arch. Neurol. 1964; 11: 369
        • Schmid R.
        • Mahler R.
        Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle.
        J. Clin. Invest. 1959; 38: 2044
      1. Blum, G. Personal communication.

        • Lathem W.
        The binding of myoglobin by plasma protein.
        J. Exper. Med. 1960; 111: 68
        • Bowden D.H.
        Acute recurrent rhabdomyolysis (paroxysmal myoglobinuria).
        Medicine. 1956; 35: 335
        • Diamond I.
        • Aquino T.I.
        Myoglobinuria following unilateral status epilepticus and ipsilateral rhabdomyolysis.
        New England J. Med. 1965; 272: 834
        • Kreistzer R.L.
        • Strait L.
        • Kerr W.J.
        Spontaneous myoglobinuria in man.
        Arch. Int. Med. 1948; 81: 249
        • Larsson L.E.
        • Linderholm H.
        • Miller R.
        • Ringquist T.
        • Sörnäs R.
        Hereditary metabolic myopathy with paroxysmal myoglobinuria due to abnormal glycolysis.
        J. Neurol. Neurosurg. & Psychiat. 1964; 27: 361
        • Perkoff G.T.
        Studies of human myoglobin in several diseases of muscle.
        New England J. Med. 1964; 270: 263
        • Boyer S.H.
        • Fainer D.C.
        • Naughton M.A.
        Myoglobin: inherited structural variation in man.
        Science. 1963; 140: 1228
        • Kontos H.A.
        • Harley E.L.
        • Wasserman A.J.
        • Kelly III, J.J.
        • Magee J.H.
        Exertional idiopathic paroxysmal myoglobinuria: Evidence of a defect in skeletal muscle metabolism.
        Am. J. Med. 1963; 35: 283
        • Korein J.
        • Coddon D.R.
        • Mowrey F.H.
        The clinical syndrome ot paroxysmal paralytic myoglobinuria. Report of two cases and an analytical review of the literature.
        Neurology. 1959; 9: 767
        • Hed R.
        • Larsson H.
        • Wahlgren F.
        Acute myoglobinuria; report of case with fatal outcome.
        Acta med. scandinav. 1955; 152: 459
        • Wheby M.S.
        • Miller Jr., H.S.
        Idiopathic paroxysmal myoglobinuria. Report of two cases occuring in sisters. Review of literature.
        Am. J. Med. 1960; 29: 599
        • Kolnikinoff N.
        • Danpschulse M.
        • Dammin G.J.
        • Merrill J.P.
        Idiopathic paroxysmal myoglobinuria: report of two cases and evaluation of the syndrome.
        Arch. Int. Med. 1956; 97: 537
      2. Dawson, D. M. Personal communication.

        • Krebs E.G.
        • Graves D.J.
        • Fischer E.H.
        Factors affecting the activity of muscle phosphorylase b kinase.
        J. Biol. Chem. 1959; 234: 2867
      3. Hug, G. Personal communication.

        • Segal S.
        • Blair A.
        Effect of salicylate on muscle phosphorylase.
        Nature. 1959; 183: 1609
        • Lyon Jr., J.B.
        • Porter J.
        The relation of phosphorylase to glycogenolysis in skeletal muscle and heart of mice.
        J. Biol. Chem. 1963; 238: 1
        • Dawson D.M.
        • Goodfriend T.L.
        • Kaplan N.O.
        Lactic dehydrogenase: functions of the two types.
        Science. 1963; 143: 929
        • Kauguard N.
        Role of the phosphorylase enzymes in cardiac contraction: a proposed theory for the rhythmical production of energy in the heart.
        Nature. 1963; 197: 1072
        • Jedeikin L.A.
        Regional distribution of glycogen and phosphorylase in the ventricles of the heart.
        Circ. Res. 1964; 14: 202
        • Emery A.E.H.
        Clinical manifestations in two carriers of Duchenne muscular dystrophy.
        Lancet. 1963; 1: 1126
      4. Ciba Foundation Symposium, Control of Glycogen Metabolism, July 23–25 Little, Brown & Co, Boston1963