Abstract
A boy with marked hepatomegaly and motor weakness was investigated for glycogen storage disease. Glycogen accumulation was demonstrated in both liver and muscle and there was a deficiency of phosphorylase b kinase activity. On the basis of biochemical findings, an autosomal recessive mode of inheritance was considered likely, rather than the more common X-linked variant, with primarily liver involvement.
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Abarbanel JM, Bashan N, Potashnik R, Osimani A, Moses SW, Herishanu Y (1986) Adult muscle phosphorylase “b” kinase deficiency. Neurology 36:560–562
Bashan N, Iancu TC, Lerner A, Fraser D, Potashnik R, Moses SW (1981) Glycogenosis due to liver and muscle phosphorylase kinase deficiency. Pediatr Res 15:299–303
Besley GTN (1987) Phosphorylase b kinase deficiency in glycogenosis type VIII: differentation of different phenotypes and heterozygotes by erythrocyte enzyme assay. J Inherited Metab Dis 10:115–118
Cohen PTW, Cohen P (1981) The molecular basis of phosphorylase kinase deficiency in I-strain mice. In: Randle PJ, Steiner DF, Whelan WJ (eds) Carbohydrate metabolism and its disorders, vol 3. Academic Press, London, pp 119–138
Cohen P, Nimmo GA, Antoniw JF (1977) Specificity of a protein phosphatase inhibitor from rabbit skeletal muscle. Biochem J 162:435–444
De Barsy Th, Lederer B (1980) Type VI glycogenosis: identification of subgroups. In: Burman D, Holton JB, Pennock CA (eds) Inherited disorders of carbohydrate metabolism. MTP Press, Lancaster, pp 369–380
Lederer B, Van Hoof F, Van den Berghe G, Hers H-G (1975) Glycogen phosphorylase and its converter enzymes in haemolysates of normal subjects and of patients with type VI glycogen-storage disease. Biochem J 147:23–35
Lederer B, Werve G van de, Barsy Th de, Hers H-G (1980) The autosomal form of phosphorylase kinase deficiency in man: reduced activity of the muscle enzyme. Biochem Biophys Res Commun 92:169–174
Lerner A, Iancu TC, Bashan N, Potashnik R, Moses S (1982) A new variant of glycogen storage disease. Am J Dis Child 136:406–410
Ohtani Y, Matsuda I, Iwamasa T, Tamari H, Origuchi Y, Miike T (1982) Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency. Neurology 32:833–838
Sorvik O, Barsy Th de, Maehle B (1982) Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. Eur J Pediatr 139:210
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Madlom, M., Besley, G.T.N., Cohen, P.T.W. et al. Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle. Eur J Pediatr 149, 52–53 (1989). https://doi.org/10.1007/BF02024335
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DOI: https://doi.org/10.1007/BF02024335