TY - JOUR
T1 - Adult Acid Maltase Deficiency
T2 - Abnormalities in Fibroblasts Cultured from Patients
AU - Angelini, Corrado
AU - Engel, Andrew G.
AU - Titus, Jack L.
PY - 1972/11/9
Y1 - 1972/11/9
N2 - A deficiency of acid maltase but not neutral maltase was observed in cultured fibroblasts obtained from six adults with glycogen-storage myopathy associated with acid maltase deficiency (AMD). Abnormal sequestration of glycogen in membrane-bound sacs, without admixture of cytoplasmic degradation products, was found in cells of three of the six AMD cultures, but the glycogen content was normal in all six cultures. Neither a partial enzyme deficiency nor a selective absence of the enzyme from affected tissues can explain the age-dependent variants of AMD. The diagnosis of AMD in adults can be made on the basis of skin as well as muscle-biopsy specimens. Prenatal diagnosis of the adult form also should be feasible.
AB - A deficiency of acid maltase but not neutral maltase was observed in cultured fibroblasts obtained from six adults with glycogen-storage myopathy associated with acid maltase deficiency (AMD). Abnormal sequestration of glycogen in membrane-bound sacs, without admixture of cytoplasmic degradation products, was found in cells of three of the six AMD cultures, but the glycogen content was normal in all six cultures. Neither a partial enzyme deficiency nor a selective absence of the enzyme from affected tissues can explain the age-dependent variants of AMD. The diagnosis of AMD in adults can be made on the basis of skin as well as muscle-biopsy specimens. Prenatal diagnosis of the adult form also should be feasible.
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U2 - 10.1056/NEJM197211092871902
DO - 10.1056/NEJM197211092871902
M3 - Article
C2 - 4507329
AN - SCOPUS:0015499592
SN - 0028-4793
VL - 287
SP - 948
EP - 951
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 19
ER -