Hepatic storage of glycogen in Niemann-Pick disease type B

J Pediatr. 2001 Jun;138(6):946-8. doi: 10.1067/mpd.2001.113103.

Abstract

We report 2 patients with confirmed Niemann-Pick disease, type B, with previous diagnoses of glycogen storage disease based on excessive glycogen on liver biopsy specimens. These cases emphasize the importance of a complete evaluation, including biochemical confirmation, for patients with suspected metabolic storage diseases.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Glycogen Storage Disease / diagnosis
  • Humans
  • Infant
  • Liver / metabolism*
  • Liver Glycogen / metabolism*
  • Male
  • Niemann-Pick Diseases / diagnosis
  • Niemann-Pick Diseases / metabolism*

Substances

  • Liver Glycogen