title: Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle.
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.
authors.affiliation: Department of Paediatrics, Ninewells Hospital, Dundee, United Kingdom.
authors.forename: M
authors.initials: M
authors.lastname: Madlom
authors.forename: G T
authors.initials: GT
authors.lastname: Besley
authors.forename: P T
authors.initials: PT
authors.lastname: Cohen
authors.forename: V J
authors.initials: VJ
authors.lastname: Marrian
mesh_terms: D002648:Child; D006008:Glycogen Storage Disease / Q000150:complications*; D006801:Humans; D008107:Liver Diseases / Q000378:metabolism*; D008297:Male; D009135:Muscular Diseases / Q000378:metabolism*; D010764:Phosphorylase Kinase / Q000172:deficiency*; D006005:Phosphorylases / Q000172:deficiency*; D006113:United Kingdom
chemical_list: D006005:Phosphorylases; D010764:Phosphorylase Kinase