Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase.
A girl with congenital limb weakness, mental retardation, and corneal ulceration died with respiratory insufficiency at age 4 years. Histochemistry of muscle biopsy showed only nonspecific myopathy, but electronmicroscopy revealed subsarcolemmal and intramyofibrillar accumulation of glycogen. Biochemical studies showed increased glycogen content of muscle with lack of phosphofructokinase. Phosphorylase b kinase activity was about 30% of normal. The relationship of the double enzyme deficiency to this unusual clinical picture is unclear.
D001706:Biopsy; D002675:Child, Preschool; D005260:Female; D006003:Glycogen / Q000032:analysis; D006008:Glycogen Storage Disease / Q000201:enzymology / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000201:enzymology / Q000473:pathology*; D009132:Muscles / Q000201:enzymology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000201:enzymology / Q000473:pathology*; D010732:Phosphofructokinase-1 / Q000172:deficiency*; D010764:Phosphorylase Kinase / Q000172:deficiency*
D006003:Glycogen; D010732:Phosphofructokinase-1; D010764:Phosphorylase Kinase