Hepatic endoplasmic reticulum storage diseases

Liver. 1992 Dec;12(6):357-62. doi: 10.1111/j.1600-0676.1992.tb00589.x.

Abstract

Endoplasmic Reticulum Storage Diseases (ERSD) represent a novel group of inborn errors of metabolism affecting secretory proteins and resulting in hepatocytic storage and plasma deficiency of the corresponding protein. The hepatocellular storage is due to a molecular abnormality hindering the translocation of the abnormal protein from the rough (RER) to the smooth endoplasmic reticulum (SER). The molecular abnormality is genetically determined; hence it is hereditary, congenital, familial and permanent. The storage is selective and exclusive for the mutant protein and predisposes to the development of chronic cryptogenic liver disease. ERSD include alpha-1-antitrypsin deficiency, fibrinogen storage and alpha-1-antichymotrypsin deficiency. Basically, the diagnosis of ERSD is a morphological one: immunohistochemistry and electron microscopy are essential tools for their identification.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Afibrinogenemia / genetics
  • Endoplasmic Reticulum / metabolism*
  • Humans
  • Liver / metabolism*
  • Liver Diseases / genetics*
  • Liver Diseases / metabolism
  • Metabolism, Inborn Errors / genetics*
  • Phenotype
  • alpha 1-Antichymotrypsin / deficiency
  • alpha 1-Antitrypsin Deficiency

Substances

  • alpha 1-Antichymotrypsin