Glycogen storage disease type I other imaging findings

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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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