Madlom M, Besley G T, Cohen P T, Marrian V J
Department of Paediatrics, Ninewells Hospital, Dundee, United Kingdom.
Eur J Pediatr. 1989 Oct;149(1):52-3. doi: 10.1007/BF02024335.
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.
