Kidney nontumor
Hereditary renal disease
Glycogen storage disease type I

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

Revised: 23 March 2018, last major update August 2012

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

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

Cite this page: Sangle, N. Glycogen storage disease. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/kidneyglycogenstoragedisease.html. Accessed July 22nd, 2018.
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