Fucosidosis: severe phenotype with survival to adult age.
A male patient with fucosidosis exhibited the following characteristics: 1. Early onset and rapid progression of neurological symptoms. 2.Skin changes compatible with angiokeratoma corporis diffusum. 3. Complete or nearly complete deficiency of alpha-fucosidase. 4. Survival to adult age (20 years). The deficiency of alpha-fucosidase was demonstrated in liver, tears, urine, sediment, and cultured fibroblasts. We conclude that severe deficiency or complete absence of alpha-fucosidase does not by itself preclude survival to adult age.
D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics* / Q000473:pathology; D000795:Fabry Disease / Q000209:etiology*; D005643:Fucose / Q000378:metabolism*; D006801:Humans; D008099:Liver / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D010641:Phenotype
D005643:Fucose