Adult Myopathy From Glycogen Storage Disease Due to Acid Maltase Deficiency

Generalized Glycogen Storage Disease in Japanese Quail (Coturnix coturnixjaponica)

“…Glycogen storage disease has been found in mammals such as man [3][4][5][7][8][9][10][11][12], cats [19], dogs [l, 2, 6, 14, 16, 171, sheep [15], and cows [18], and this disease in animals was considered to be similar to type I [l, 21, I1 [15, 16, 18, 191, or I11 [6, 14, 171 in man.…”

Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.

“…The clinical manifestations of the adult form are limited to skeletal muscle. Generalized weakness anid wastinig of the muitscles appear in the second to the fourth decade of life and death usually occurs in the forties (5,6).…”

“…However, with maltose as substrate, a residual a-1,4-glucosidase activity has been observed in leukocytes (6,8), muscle (5,6), urine (9), and cultured skin fibroblasts (10) of the adult form of the disease. By use of antibodies made against purified human placental acid a-glucosidase, lack (11)(12)(13) or severe reduction (14) of cross-reacting material has been observed in the liver and the fibroblasts of patienits with glycogenosis type II.…”

A Novel Mutation of the <i>GAA</i> Gene in a Patient with Adult-onset Pompe Disease Lacking a Disease-specific Pathology

“…Based on the age of onset and clinical severity, the disease is classified into infantile, childhood-onset and adult-onset forms (1)(2)(3)(4)(5)(6). The GAA gene is located on chromosome 17q25.2-q25.…”