[Fucosidosis: review of personal experience].
Fucosidosis is a rare inherited metabolic disease characterized by severe psycho-motor degeneration. The basic defect is a deficiency of alpha-L-fucosidase which results in neuro-visceral of fucosyl compounds. We observed 7 cases of fucosidosis and an eighth case was diagnosed before birth. This review summarizes the clinical findings, radiological abnormalities and laboratory data which are indispensable for diagnosis. Clinical heterogeneity, incidence in Italian people, and difficulties in detection of carriers and in prenatal diagnosis are also discussed.
D000794:Angiokeratoma / Q000175:diagnosis; D001842:Bone and Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007983:Lewis Blood Group Antigens; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013542:Sweat / Q000032:analysis; D005644:alpha-L-Fucosidase / Q000172:deficiency*
D007983:Lewis Blood Group Antigens; D005644:alpha-L-Fucosidase
Fucosidosi: revisione dell'esperienza personale.