Glycogen storage disease type I causes: Difference between revisions
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==Causes== | ==Causes== | ||
*Glycogen storage disease type 1 is an autosomal recessive disorder.<ref name="pmid10322403">{{cite journal| author=Mansfield BC| title=Molecular Genetics of Type 1 Glycogen Storage Diseases. | journal=Trends Endocrinol Metab | year= 1999 | volume= 10 | issue= 3 | pages= 104-113 | pmid=10322403 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10322403 }} </ref> | *Glycogen storage disease type 1 is an autosomal recessive disorder.<ref name="pmid10322403">{{cite journal| author=Mansfield BC| title=Molecular Genetics of Type 1 Glycogen Storage Diseases. | journal=Trends Endocrinol Metab | year= 1999 | volume= 10 | issue= 3 | pages= 104-113 | pmid=10322403 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10322403 }} </ref><ref name="pmid17552001">{{cite journal| author=Ozen H| title=Glycogen storage diseases: new perspectives. | journal=World J Gastroenterol | year= 2007 | volume= 13 | issue= 18 | pages= 2541-53 | pmid=17552001 | doi= | pmc=4146814 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17552001 }} </ref><ref name="pmid21599942">{{cite journal| author=Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A et al.| title=Glucose-6-phosphatase deficiency. | journal=Orphanet J Rare Dis | year= 2011 | volume= 6 | issue= | pages= 27 | pmid=21599942 | doi=10.1186/1750-1172-6-27 | pmc=3118311 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21599942 }} </ref> | ||
*Glycogen storage disease type 1a is caused by the deficiency of the glucose-6-phosphatase enzyme. The gene for the glucose-6-phosphatase enzyme is located on chromosome 17q21. | *Glycogen storage disease type 1a is caused by the deficiency of the glucose-6-phosphatase enzyme. The gene for the glucose-6-phosphatase enzyme is located on chromosome 17q21. | ||
*Glycogen storage disease type 1b is caused by a defect in the microsomal glucose-6-phosphate transporter. The gene for the glucose-6-phosphatase enzyme is located on chromosome 11q23. | *Glycogen storage disease type 1b is caused by a defect in the microsomal glucose-6-phosphate transporter. The gene for the glucose-6-phosphatase enzyme is located on chromosome 11q23. | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Causes
- Glycogen storage disease type 1 is an autosomal recessive disorder.[1][2][3]
- Glycogen storage disease type 1a is caused by the deficiency of the glucose-6-phosphatase enzyme. The gene for the glucose-6-phosphatase enzyme is located on chromosome 17q21.
- Glycogen storage disease type 1b is caused by a defect in the microsomal glucose-6-phosphate transporter. The gene for the glucose-6-phosphatase enzyme is located on chromosome 11q23.
References
- ↑ Mansfield BC (1999). "Molecular Genetics of Type 1 Glycogen Storage Diseases". Trends Endocrinol Metab. 10 (3): 104–113. PMID 10322403.
- ↑ Ozen H (2007). "Glycogen storage diseases: new perspectives". World J Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.
- ↑ Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A; et al. (2011). "Glucose-6-phosphatase deficiency". Orphanet J Rare Dis. 6: 27. doi:10.1186/1750-1172-6-27. PMC 3118311. PMID 21599942.