[Gaucher's and Fabry's diseases: biochemical and genetic aspects]

J Soc Biol. 2002;196(2):135-40.
[Article in French]

Abstract

Gaucher and Fabry's diseases are lysosomal storage disorders. They are due to glucocerebrosidase or alpha galactosidase deficiency, respectively. Gaucher disease, transmitted as an autosomal recessive trait, is frequent among Ashkenazi Jews. Cloning of the gene has allowed the characterization of few common mutations. Some of them have a prognosis value, in favour of either a non neurological form (type 1) or more severe forms (types 2 and 3). There mutations were found in 70% of the alleles, the other alleles carrying private mutations. Fabry disease is transmitted as an X-linked recessive trait. Genetic counselling in at-risk families relies on the detection of carrier females. As the alpha galactosidase gene shows various mutations, the establishment of phenotype-genotype correlations is limited. These two diseases, well defined at the biochemical and genetic level, are good models of inherited diseases for the development of specific therapies.

Publication types

  • Review

MeSH terms

  • Alleles
  • Chromosomes, Human, Pair 1 / genetics
  • DNA Mutational Analysis
  • Ethnicity / genetics
  • Fabry Disease* / enzymology*
  • Fabry Disease* / genetics
  • Female
  • Gaucher Disease / classification
  • Gaucher Disease / diagnosis
  • Gaucher Disease / enzymology*
  • Gaucher Disease / ethnology
  • Gaucher Disease / genetics
  • Genetic Carrier Screening
  • Genetic Counseling
  • Glucosylceramidase / deficiency*
  • Glucosylceramidase / genetics
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Phenotype
  • Prognosis
  • X Chromosome / genetics
  • alpha-Galactosidase / genetics

Substances

  • alpha-Galactosidase
  • Glucosylceramidase