Number of the records: 1

fukozidóza

Subject h.	fukozidóza
Subject h.	Fucosidosis
Entry terms	choroba z deficitu fukozidázy choroba z nedostatku fukozidázy
English X references	Fucosidase Deficiency Disease
Scope note in English	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)
See also reference (FX) in Slovak	alfa-L-fukozidáza
See also reference (FX) in English	alpha-L-Fucosidase
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Number of the records: 1