Document Detail

Residual acid maltase activity in late-onset acid maltase deficiency.
MedLine Citation:
PMID:  264606     Owner:  NLM     Status:  MEDLINE    
Residual acid maltase activity was found by a sensitive fluorometric assay in muscle biopsies from 15 patients with late-onset acid maltase deficiency (mean, 6.91 percent; range, 2.4 to 12.2) but not in biopsy or autopsy muscle from three patients with the infantile form. Electrophoresis, kinetic characteristics, and subcellular fractionation indicated that the residual activity was lysosomal acid maltase and not a contaminating isozyme of neutral maltase. There was no correlation between the amount of residual acid maltase activity and the severity of the clinical picture or glycogen accumulation. The presence of acid maltase activity in muscle, liver, and, to a greater extent, leukocytes in late-onset but not infantile acid maltase deficiency and the failure of the two disease forms to occur in the same family suggest that they are genetically distinct.
M Mehler; S DiMauro
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Neurology     Volume:  27     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1977 Feb 
Date Detail:
Created Date:  1977-03-31     Completed Date:  1977-03-31     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  178-84     Citation Subset:  IM    
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MeSH Terms
Brain / enzymology
Glucosidases / deficiency*,  metabolism
Glycogen Storage Disease / enzymology*
Glycogen Storage Disease Type II / enzymology*
Leukocytes / enzymology
Liver / enzymology
Lysosomes / enzymology
Muscles / enzymology,  ultrastructure
Myocardium / enzymology
Subcellular Fractions / enzymology
Reg. No./Substance:
EC 3.2.1.-/Glucosidases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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