Kidney nontumor
Other hereditary renal disease
Glycogen storage disease type I

Author: Nikhil Sangle, M.D. (see Authors page)

Revised: 19 November 2018, last major update August 2012

Copyright: (c) 2003-2018,, Inc.

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

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Cite this page: Sangle, N. Glycogen storage disease. website. Accessed January 21st, 2019.
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
Electron microscopy description