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.
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↵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.
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