Vacuolar myopathy with type 2 A fiber atrophy and type 2 B fiber deficiency. A case of childhood form acid alpha-1,4-glucosidase deficiency.
This report describes a female patient with childhood form of acid maltase deficiency who survived till fifteen years old. Although acid alpha-1,4-glucosidase was deficient in the liver, kidney, skeletal and cardiac muscles, neutral alpha-1,4-glucosidase was present in normal concentrations in those organs. On light microscopic examination, numerous intracytoplasmic vacuoles containing acid phosphatase positive granules and PAS positive materials were present in both type 1 and 2 A fibers, predominantly in the latter. The striking finding in the present case was a selective type 2 fiber atrophy with type 2 B fiber deficiency believed to result from type 2 motor neuron dysfunction in the spinal cord. Electron microscopic study revealed extensive glycogen particle accumulation, autophagic vacuoles and myelin figures in the muscle fibers.
D000293:Adolescent; D004576:Electromyography; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency*; D005959:Glucosidases / Q000172:deficiency*; D006003:Glycogen / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000201:enzymology*; D006009:Glycogen Storage Disease Type II / Q000201:enzymology* / Q000473:pathology; D006801:Humans; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000201:enzymology* / Q000473:pathology; D009940:Organoids / Q000648:ultrastructure; D014617:Vacuoles / Q000648:ultrastructure; D000520:alpha-Glucosidases
D006003:Glycogen; D005959:Glucosidases; D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase