Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle |
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| Authors: | M Madlom G T N Besley P T W Cohen V J Marrian |
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| Institution: | (1) Department of Paediatrics, Ninewells Hospital, DD1 9SY Dundee, UK;(2) Department of Pathology, Royal Hospital for Sick Children, EH9 1LF Edinburgh, UK;(3) Department of Biochemistry, University of Dundee, DD1 4HN Dundee, UK;(4) Department of Paediatrics, Perth Royal Infirmary, PH1 1NX Perth, UK;(5) Department of Paediatric Biochemistry, Royal Hospital for Sick Children, EH9 1LF Edinburgh, UK |
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| 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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| Keywords: | Glycogenosis Phosphorylase kinase Muscle Liver |
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