Lysosomal glycogen storage disease without acid maltase deficiency.
We studied two brothers with lysosomal glycogen storage disease without acid maltase deficiency in skeletal muscle. Although no specific biochemical defect was identified, a characteristic clinical picture emerged from evaluation of these siblings and two other previously reported patients. The syndrome is manifested by proximal muscle weakness, hypertrophic cardiomyopathy, probable intellectual impairment, and possible liver involvement.
D000293:Adolescent; D001921:Brain / Q000473:pathology; D002648:Child; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency*; D005959:Glucosidases / Q000172:deficiency*; D006008:Glycogen Storage Disease / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D009132:Muscles / Q000473:pathology
D005959:Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase