Non-neoplastic disorders

Author: Elliot Weisenberg, M.D.(see Authors page)

Revised: 12 April 2016, last major update July 2012

Copyright: (c) 2003-2016,, Inc.

Cite this page: Mucolipidosis. website. Accessed July 21st, 2018.
Definition / general
  • Mucolipidosis type IV: autosomal recessive lysosomal storage disease caused by mutations in MCOLN1 that encodes for mucolipin1 (Mol Genet Metab 2011;104:206)
  • Approximately 70% of patients are Ashkenazi Jews
  • Patients present with cerebral palsy-like encephalopathy and severe neurologic abnormalities
  • In brain, have accumulation of lamellated membrane structures in lysosomes and pigmented cytoplasmic granules in neurons; similar changes found in other cells
  • n stomach, associated with hypergastrinemia, achlorhydria, chronic atrophic gastritis, enterochromaffin-like cell hyperplasia; parietal cells have striking cytoplasmic vacuolization due to large lysosomes containing lamellar, concentric, and cystic membranous inclusions (Am J Surg Pathol 1999;23:1527
Microscopic (histologic) images
Image hosted on other servers, contributed by Raul Gonzalez M. D.

Constitutive achlorhydria in mucolipidosis type‚ÄČIV