Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle.
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.
Madlom
M
M
Department of Paediatrics, Ninewells Hospital, Dundee, United Kingdom.
Besley
G T
GT
Cohen
P T
PT
Marrian
V J
VJ
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
D006005:Phosphorylases; D010764:Phosphorylase Kinase