Fucosidosis

Genetic Defects in Glycoprotein Metabolism

“…a-Fucosidase activity is nearly totally deficient or below limits of detectability in tissues of patients (57). In general, enzyme levels of obligate heterozygotes in cultured skin fibroblasts (23 , 56) or leukocytes (21,112,157,253) are intermediate between normal controls and patients, which is the anticipated gene-dose response for an autosomal recessive disease.…”

“…Both clinical subtypes have been described in the same family group (56), and it is highly improbable that both mutations occur within the same pedigree. Others have suggested that the two phenotypes may arise by differential accumulation of storage materials, such as blood group substances, whose biosynthesis is under a different system of genetic control (57). However, an unusual distribution of blood-group polymorphisms has not been detected in populations with high incidence of a-fucosidosis (219) .…”

“…Descriptions of patients with this disorder were made 13 years ago by Durand (53)(54)(55)264) . At present 60 cases of fucosidosis have been reported; many affected individuals are of Italian ancestry (57).…”

Sequencing and expression of a full‐length cDNA for humanα‐L‐fucosidase

“…In this disease, accumulation of fucoglycoconjugates in the Iysosomes of most cells including the brain leads to progressive brain dysfunction and somatic changes (Durand et al, 1982). Currently no effective therapy is available.…”

Genetic and Demographic Characterization of a Population with High Incidence of Fucosidosis

“…1966[Durand et al. , 1969, originate from two neighboring villages, Grotteria and Mam mola, in the Southern Italian province of Reggio Calabria.…”