Svensk definition
En autosomalt recessiv, lysomal upplagringssjukdom orsakad av en alfa-L-fukosidasdefekt, som leder till ansamling av fukos, med sfingolipider, glykoproteiner och mukopolysackarider (glykosaminoglykaner), i lysosomer. Typ 1, som debuterar vid 18 månaders ålder, karaktäriseras av försämrade psykomotoriska egenskaper, muskelryckningar, grova ansiktsdrag, försenad växt, skelettmissbildningar, förstorade inre organ, krampanfall, återkommande infektioner och makroglossi, och leder till döden inom livets första tio år. Typ 2, som uppträder efter fyra års ålder, är en vanligare variant och uppvisar en långsamt fortskridande försämring av nervfunktionerna och angiokeratom. Typ 2-patienter kan leva i mer än 40 år.
Engelsk definition
An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
alpha-Fucosidase Deficiency Disease — Deficiency Diseases, alpha-Fucosidase — Disease, alpha-Fucosidase Deficiency — Diseases, alpha-Fucosidase Deficiency — alpha Fucosidase Deficiency Disease — alpha-Fucosidase Deficiency Diseases — alpha-L-Fucosidase Deficiency Disease — Deficiency Diseases, alpha-L-Fucosidase — Disease, alpha-L-Fucosidase Deficiency — Diseases, alpha-L-Fucosidase Deficiency — alpha L Fucosidase Deficiency Disease — alpha-L-Fucosidase Deficiency Diseases — Fucosidase Deficiency — Deficiency Disease, alpha-L-Fucosidase — Deficiency Disease, alpha L Fucosidase — alpha-L-Fucosidase Deficiency — Alpha-Fucosidase Deficiency — Fucosidase Deficiency Disease — Deficiency Disease, Fucosidase — Deficiency Diseases, Fucosidase — Disease, Fucosidase Deficiency — Diseases, Fucosidase Deficiency — Fucosidase Deficiency Diseases — Deficiency Disease, alpha-Fucosidase — Deficiency Disease, alpha Fucosidase — Fucosidosis Type I — Fucosidosis Type 1 — Fucosidosis Type 1s — Type 1, Fucosidosis — Type 1s, Fucosidosis — Fucosidosis, Infantile — Infantile Fucosidosis — Fucosidosis Type II — Fucosidosis, Juvenile — Juvenile Fucosidosis