Adrenal gland and paraganglia
Congenital anomalies
Storage diseases - Pompes disease

Author: Nat Pernick, M.D. (see Authors page)

Revised: 15 January 2016, last major update February 2005

Copyright: (c) 2002-2016,, Inc.

Related: Adrenoleukodystrophy  Wolmans disease
Table of Contents
Definition / general
Cite this page: Storage diseases, Pompes disease. website. Accessed November 12th, 2018.
Definition / general
  • Also called type II glycogenosis
  • Infantile form of generalized glycogenosis, due to deficiency of lysosomal acid alpha-1,4-glucosidase
  • Intralysosomal glycogen storage in CNS, heart, liver, skeletal muscle, thyroid, parathyroid, pituitary and pancreatic islets
  • Also in adrenal cortex and medulla with severe accumulation in zona fasciculata (Arch Pathol Lab Med 1985;109:921)