Acid maltase deficiency

Eleven defects in the metabolism of glycogen have been reported nine of them affect skeletal muscle directly (see Figure 5), but only glycogenosis type II (acid maltase deficiency) and glycogenesis type V (myophosphorylase deficiency) are reasonably common the rest are rare and some have been recorded in isolated case studies only. 

Human creatine kinase -MM MAK33 IgGl Cardiac disease, mitochondrial disorders, inflammatory myopathies, myasthenia, polymyositis, McArdle s disease, NMJ disorders, muscular dystrophy, ALS, hypo and hyperthyroid disorders, central core disease, acid maltase deficiency, myoglobinuria, rhabdomyolysis, motor neuron diseases, A. thaliana A. thaliana 2S2 seed storage protein SP + 0.02-0.4% TSP of fresh leaf extract (10-12% TSP of intercellular fluid) 52... 

An additional cause of weakness may be involvement of the anterior horn cells of the spinal cord, which is very conspicuous in infantile acid maltase deficiency. All three glycogenoses causing weakness are in fact due to generalized enzyme defects, but histological signs of denervation are not evident. 

AMD (i) acid maltase deficiency (ii) age-related macular CAT computer assisted tomography... 

Bodamer, O. A., Leonard, J. V. and Halliday, D. (1997). Dietary treatment in late-onset acid maltase deficiency. Eur. J. Pediatr. 156(Suppl. 1), S39-S42. 

Lin, C. Y., Ho, C. H., Hsieh, Y. H. and Kikuchi, T. (2002). Adeno-associated virus-mediated transfer of human acid maltase gene results in a transient reduction of glycogen accumulation in muscle of Japanese quail with acid maltase deficiency. Gene Ther. 9, 554-563. 

Martiniuk, F., Chen, A., Mack, A., Donnabella, V., Slonim, A., Bulone, L., Arvanitopoulos, E., Raben, N., Plotz, P. and Rom, W. N. (2002). Helios gene gun particle delivery for therapy of acid maltase deficiency. DNA Cell Biol. 21, 717-725. 

Amato A A (2000). Acid maltase deficiency and related myopathies. Neurol. Clin. 18(1) 151-165. 

The isoenzymes of a-D-glucosidases have been studied in human white blood cells by immunological and electrophoretic techniques.Three isoenzymes have been found in leucocyte extracts lysosomal a-D-glucosidase ( acid maltase, glucoamylase), cytoplasmic neutral oi-D-glucosidase, and an enzyme immuno-logically identical to renal maltase (a-D-glucosidase). In Pompe s disease and other types of acid maltase deficiency, the deficiency is as complete in leucocytes as in other tissues, and the residual activity is due to renal maltase . 

Four cases of atypical forms of glycogenosis with a-D-glucosidase ( acid maltase) deficiency have been described. Studies of the enzyme activity in muscle, leucocytes, and fibroblasts emphasized the heterogeneity of a-D-glucosidase deficiency in man. The properties of the enzyme purified from various tissues were studied. The pH optimum of the placental enzyme was found to be ca. pH 4.9. 

Blom, W., Luteyn, J. C., Kelholt-Dijkman, H. H., Huijmans, J. G. M., and Loonen, M. C. B. (1983). Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency (Pompe s disease). Clin. Chim. Acta 134 221-227. 

Table 15.9. Glycogen storage disease type 2 (acid a-glucosidase, acid maltase deficiency)...

Among several of our patients with other non-IBM vacuolar myopathies, including acid-maltase deficiency, hypokalemic periodic paralysis, myofibrillar myopathy, and undefined types, none had true amyloid deposits as identified by crystal violet staining. Abnormal muscle fibers in myofibrillar myopathy (as originally reported by De Bleecker et al. [9]) indeed have fluorescence-enhanced congophilic accumulations, but we doubt that in... 

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