Glycogen storage disease type II causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Disease name] may be caused by [cause1], [cause2], or [cause3].
OR
Common causes of [disease] include [cause1], [cause2], and [cause3].
OR
The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].
OR
The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click here.
Causes
- Glycogen storage disease type 2 is an autosomal recessive disorder.
- Glycogen storage disease type 2 is caused by the deficiency of the lysosomal acid alpha-1,4-glucosidase enzyme. Gene responsible for the lysosomal acid alpha-1,4-glucosidase enzyme deficiency is located on chromosome 17q25.2-q25.3.[1]
References
- ↑ Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R (1990). "Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences". DNA Cell Biol. 9 (2): 85–94. doi:10.1089/dna.1990.9.85. PMID 2111708.