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Identification of eight novel mutations of the acidα-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

✍ Scribed by L. Wan; C.-C. Lee; C.-M. Hsu; W.-L. Hwu; C.-C. Yang; C.-H. Tsai; F.-J. Tsai

Book ID
106093878
Publisher
Springer
Year
2008
Tongue
English
Weight
466 KB
Volume
255
Category
Article
ISSN
0340-5354

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The autosomal recessive disorder Glycogen Storage Disease Type II (GSDII) is caused by a deficiency in the lysosomal enzyme acid -glucosidase. We have optimised a procedure to use fluorescent DNA sequencing technology to screen for mutations within the -glucosidase gene from UK patients with GSDII.

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The autosomal recessive glycogen storage disease type I1 is associated with a deficiency of lysosomal a-glucosidase (acid maltase). This paper reports on the mutations in the lysosomal a-glucosidase alleles of an adult patient. A G-1927 to A transition was discovered in exon 14 causing the substitut