Fucosidosis

Fukosidos

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