Japanese quail and human acid maltase deficiency: a comparative study.
A morphological study was carried out on the skeletal muscle of a mutant Japanese quail with acid maltase deficiency (AMD). The affected quails began to experience difficulty in lifting their wings about 6 weeks after hatching. Four weeks after hatching, before symptoms appeared, alpha-1, 4-glucosidase activity in skeletal muscle was decreased to less than 10% of the control level, and muscle fibers possessed many vacuoles containing periodic acid Schiff (PAS) positive material which was digested by diastase, and showed high acid phosphatase activity. Although both red and white muscles were involved, the pectoralis superficialis (PS, white) muscle was preferentially affected, showing intracytoplasmic vacuoles, variation in fiber size and fatty tissue replacement relatively early in the disease. The quails' disease closely resembled human late onset AMD in the slow clinical course, the presence of residual acid alpha-glucosidase activity and the muscle pathology. This mutant quail seems a useful model for elucidation of the muscle degeneration in human AMD (glycogen storage disease type 2).
Fujita
T
T
National Institute of Neuroscience, NCNP, Kodaira, Tokyo, Japan.
Nonaka
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I
Sugita
H
H
D000293:Adolescent; D000328:Adult; D000818:Animals; D001715:Bird Diseases / Q000201:enzymology / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003370:Coturnix / Q000378:metabolism*; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency*; D006009:Glycogen Storage Disease Type II / Q000201:enzymology / Q000473:pathology* / Q000662:veterinary*; D006801:Humans; D007223:Infant; D008875:Middle Aged; D009132:Muscles / Q000473:pathology*; D000520:alpha-Glucosidases
D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase