Lysosomal storage in human skeletal muscle.
Skeletal muscle is involved symptomatically in two lysosomal storage diseases, acid maltase deficiency and a similar condition in which enzyme levels are normal. Asymptomatic storage in skeletal muscle cells is found in Batten-Kufs' disease (ceroid lipofuscinosis), Fabry's disease, and mannosidosis, as well as in rare patients with an unidentified storage disease. Other cell types (vascular endothelium, smooth muscle, fibroblasts, satellite cells) within the confines of the biopsy specimen may reveal storage in other diseases. The differential diagnosis involves predominantly both normal and abnormal conditions in which acid phosphatase activity is prominent in cells.
D001706:Biopsy; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000473:pathology; D005645:Fucosidosis / Q000473:pathology; D005733:Gangliosidoses / Q000473:pathology; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency; D006008:Glycogen Storage Disease / Q000473:pathology; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000473:pathology*; D008854:Microscopy, Electron; D009081:Mucolipidoses / Q000473:pathology; D009083:Mucopolysaccharidoses / Q000473:pathology; D009132:Muscles / Q000473:pathology*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000473:pathology; D012497:Sandhoff Disease / Q000473:pathology; D008363:alpha-Mannosidosis / Q000473:pathology
D005087:Glucan 1,4-alpha-Glucosidase