Glycogen storage disease type II causes: Difference between revisions
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==Causes== | ==Causes== | ||
*Glycogen storage disease type 2 is an [[autosomal recessive]] disorder. | *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. | *Glycogen storage disease type 2 is caused by the deficiency of the lysosomal acid alpha-1,4-glucosidase enzyme. GAA gene responsible for the lysosomal acid alpha-1,4-glucosidase enzyme deficiency is located on [[chromosome]] 17q25.<ref name="pmid2111708">{{cite journal| author=Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R| title=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. | journal=DNA Cell Biol | year= 1990 | volume= 9 | issue= 2 | pages= 85-94 | pmid=2111708 | doi=10.1089/dna.1990.9.85 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2111708 }} </ref> | ||
==References== | ==References== |
Revision as of 16:36, 19 January 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
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.
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. GAA gene responsible for the lysosomal acid alpha-1,4-glucosidase enzyme deficiency is located on chromosome 17q25.[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.