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{{Glycogen storage disease type I}}
{{Glycogen storage disease type I}}


{{CMG}}; {{AE}} {{Anmol}}
{{CMG}}; {{AE}}{{Anmol}}


==Overview==
==Overview==
Dual energy X-ray absorptiometry (DXA) may be helpful in the diagnosis of osteoporosis and/or osteopenia due to poor metabolic control in patients with glycogen storage disease type 1. Findings on an dual energy X-ray absorptiometry suggestive of osteoporosis and/or osteopenia in patients with glycogen storage disease type 1 include low bone mineral density.
[[Dual energy X-ray absorptiometry]] ([[DXA]]) may be helpful in the diagnosis of [[osteoporosis]] and/or [[osteopenia]] due to poor metabolic control in patients with glycogen storage disease type 1. Findings on an [[dual energy X-ray absorptiometry]] suggestive of [[osteoporosis]] and/or [[osteopenia]] in patients with glycogen storage disease type 1 include low [[bone mineral density]] (BMD).


==Other Imaging Findings==
==Other Imaging Findings==
===Dual Energy X-ray Absorptiometry===
===Dual Energy X-ray Absorptiometry===
*Glycogen storage disease type 1 with poor metabolic control is associated with low bone mineral density.<ref name="pmid22481133">{{cite journal| author=Minarich LA, Kirpich A, Fiske LM, Weinstein DA| title=Bone mineral density in glycogen storage disease type Ia and Ib. | journal=Genet Med | year= 2012 | volume=  | issue=  | pages=  | pmid=22481133 | doi=10.1038/gim.2012.36 | pmc=3884026 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22481133  }} </ref>
*Glycogen storage disease type 1 with poor metabolic control develops [[osteoporosis]] and/or [[osteopenia]] which is associated with low [[bone mineral density]] (BMD).<ref name="pmid22481133">{{cite journal| author=Minarich LA, Kirpich A, Fiske LM, Weinstein DA| title=Bone mineral density in glycogen storage disease type Ia and Ib. | journal=Genet Med | year= 2012 | volume=  | issue=  | pages=  | pmid=22481133 | doi=10.1038/gim.2012.36 | pmc=3884026 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22481133 }} </ref><ref name="pmid14970741">{{cite journal| author=Cabrera-Abreu J, Crabtree NJ, Elias E, Fraser W, Cramb R, Alger S| title=Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IX. | journal=J Inherit Metab Dis | year= 2004 | volume= 27 | issue= 1 | pages= 1-9 | pmid=14970741 | doi=10.1023/B:BOLI.0000016632.13234.56 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14970741  }} </ref><ref name="pmid12971425">{{cite journal| author=Rake JP, Visser G, Huismans D, Huitema S, van der Veer E, Piers DA et al.| title=Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: a cross-sectional and longitudinal study. | journal=J Inherit Metab Dis | year= 2003 | volume= 26 | issue= 4 | pages= 371-84 | pmid=12971425 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12971425  }} </ref><ref name="pmid12219054">{{cite journal| author=Schwahn B, Rauch F, Wendel U, Schönau E| title=Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control. | journal=J Pediatr | year= 2002 | volume= 141 | issue= 3 | pages= 350-6 | pmid=12219054 | doi=10.1067/mpd.2002.126456 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12219054 }} </ref>
*Dual energy X-ray absorptiometry is used to diagnose low bone mineral density.
*[[Dual energy X-ray absorptiometry]] is used to diagnose low [[bone mineral density]] (BMD).
 
==References==
==References==
{{reflist|2}}
{{reflist|2}}
 
[[Category:Endocrinology]]
[[Category:Hepatology]]
[[Category:Gastroenterology]]
[[Category:Gastroenterology]]
[[Category:Hepatology]]
[[Category:Pediatrics]]
[[Category:Endocrinology]]
[[Category:Up-To-Date]]
 
[[Category:Genetic disorders]]
[[Category:Metabolic disorders]]
[[Category:Radiology]]
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Latest revision as of 18:00, 30 November 2017

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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

Dual energy X-ray absorptiometry (DXA) may be helpful in the diagnosis of osteoporosis and/or osteopenia due to poor metabolic control in patients with glycogen storage disease type 1. Findings on an dual energy X-ray absorptiometry suggestive of osteoporosis and/or osteopenia in patients with glycogen storage disease type 1 include low bone mineral density (BMD).

Other Imaging Findings

Dual Energy X-ray Absorptiometry

References

  1. Minarich LA, Kirpich A, Fiske LM, Weinstein DA (2012). "Bone mineral density in glycogen storage disease type Ia and Ib". Genet Med. doi:10.1038/gim.2012.36. PMC 3884026. PMID 22481133.
  2. Cabrera-Abreu J, Crabtree NJ, Elias E, Fraser W, Cramb R, Alger S (2004). "Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IX". J Inherit Metab Dis. 27 (1): 1–9. doi:10.1023/B:BOLI.0000016632.13234.56. PMID 14970741.
  3. Rake JP, Visser G, Huismans D, Huitema S, van der Veer E, Piers DA; et al. (2003). "Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: a cross-sectional and longitudinal study". J Inherit Metab Dis. 26 (4): 371–84. PMID 12971425.
  4. Schwahn B, Rauch F, Wendel U, Schönau E (2002). "Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control". J Pediatr. 141 (3): 350–6. doi:10.1067/mpd.2002.126456. PMID 12219054.

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