Type I Gaucher's disease with homozygous R463C mutation without neurological involvement

Haematologia (Budap). 2002;32(4):487-93.

Abstract

Gaucher's disease is an inherited glycolipid storage disorder, caused by a deficiency of the catabolic enzyme glucocerebrosidase. Frequently, N370S and L444P of mutations are observed. R463C (i.e., 1504C-->T) mutation may predict neurological involvement in Gaucher's disease. We report a 36-year-old Turkish man with type I Gaucher's disease with homozygous R463C mutation without neurological involvement.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Gaucher Disease / enzymology*
  • Gaucher Disease / genetics*
  • Gaucher Disease / pathology
  • Glucosylceramidase / deficiency
  • Glucosylceramidase / genetics*
  • Homozygote
  • Humans
  • Male
  • Nervous System / pathology
  • Point Mutation*

Substances

  • Glucosylceramidase