Article Text

PDF

Acid maltase levels in muscle in heterozygous acid maltase deficiency and in non-weak and neuromuscular disease controls
  1. Andrew G. Engel,
  2. Manuel R. Gomez
  1. Mayo Clinic and Mayo Foundation, Rochester, Minnesota, U.S.A.
  2. Department of Neurology and Neuromuscular Research Laboratory, Rochester, Minnesota, U.S.A.

    Abstract

    Acid maltase (AM) deficiency carriers can be detected by muscle enzyme assay. The assay indicates that, just as in infantile and childhood cases, adult cases of the disease are transmitted by autosomal recessive inheritance. With the maltose hydrolysis assay, in some neuromuscular diseases, muscle AM activity can be as low as in heterozygous AM deficiency. A relatively low muscle AM activity in myxoedema myopathy is confirmed. In human muscle, the Km of the enzyme for maltose hydrolysis is 7·2 to 9 × 10−3M. A modification of the enzyme assay based on this fact is recommended.

    Statistics from Altmetric.com

    Footnotes

    • 1 This investigation was supported in part by Research Grant NB-6277 from the National Institutes of Health, Public Health Service, and by a grant from the Louis W. and Maud Hill Family Foundation.

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.