title: Krabbe disease: increased incidence in a highly inbred community.
abstract: Krabbe disease (globoid cell leukodystrophy) was found with very high incidence (6/1,000 live births) in a large Druze kindred in Israel. The clinical data on 12 of the affected children demonstrated clinical variability even though these children are homozygous for the same mutation by descent from a common ancestor.
mesh_terms: D000367:Age Factors; D005698:Galactosylceramidase / Q000172:deficiency; D006801:Humans; D007178:Inbreeding; D007557:Israel; D007965:Leukodystrophy, Globoid Cell / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree
chemical_list: D005698:Galactosylceramidase