Open AccessTYPE IV GLYCOGENOSIS ‐ A STUDY OF TWO CASES
Author(s) -
Ishihaea Tokuhiro,
Uchino Fumiya,
Adachi Hironobu,
Takahashi Mutsuo,
Watanabe Seishiro,
Tsunetoshi Sadahiko,
Fuji Tsunehiro,
Ikee Yoshihiko
Publication year - 1975
Publication title -
acta patholigica japonica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
ISSN - 0001-6632
DOI - 10.1111/j.1440-1827.1975.tb01995.x
Subject(s) - pathology , medicine , computer science
Liver biopsy materials of two siblings with type IV glycogenosis were studied by light and electron microscopy. Biochemical analysis was added using autopsy material in one of the two cases. Two kinds of polysaccharides were noted not only in the cardiac muscle, skeletal muscles, smooth muscles and reticuloendothelial cells, but also in the neutrophils and platelets. One was glycogen and the other was similar to amylopectin. Ultrastructurally, a large amount of fibrils, 60 A in width, glycogen rosettes and glycogen granules were detected in those cells. Branching glycosyl‐transferase deficiency was biochemically confirmed in one case examined.