Kidney nontumor
Other hereditary renal disease
Glycogen storage disease type I


Topic Completed: 6 August 2012

Minor changes: 26 February 2019

Copyright: 2002-2019, PathologyOutlines.com, Inc.

PubMed Search: Glycogen storage disease [title] type I kidney pathology

Nikhil Sangle, M.D.
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Cite this page: Sangle N. Glycogen storage disease. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/kidneyglycogenstoragedisease.html. Accessed May 28th, 2020.
Definition / general
  • Autosomal recessive disorder caused by defects in the glucose-6-phosphatase complex
  • Type IA: deficient activity in glucose-6-phosphatase-a (G6Pase) catalytic unit
  • Type IB: defects in glucose-6-phosphate transporter protein (G6PC)
  • Also G6Pase-β deficiency (Nat Rev Endocrinol 2010;6:676)
Clinical features
Treatment
Electron microscopy description
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