Two mutations affecting the transport and maturation of lysosomal α-glucosidase in an adult case of glycogen storage disease type II

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Abstract
The autosomal recessive glycogen storage disease type II is associated with a deficiency of lysosomal α‐glucosidase (acid maltase). This paper reports on the mutations in the lysosomal α‐glucosidase alleles of an adult patient. A G‐1927 to A transition was discovered in exon 14 causing the substitution of Gly‐643 by Arg and a second C‐2173 to T transition in exon 15 resulting in the substitution of Arg‐725 by Trp. Each of the mutations was located in a different allele. The mutations were introduced in the wild‐type lysosomal α‐glucosidase cDNA and expressed in COS cells. Both mutations had a similar effect. The synthesis of the mutant enzyme precursors was not disturbed but the intracellular transport and maturation were impaired. As a result there was an overall deficiency of catalytic activity.

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