FUCOSIDOSIS TYPE II
\fjˌuːkəsɪdˈə͡ʊsɪs tˈa͡ɪp ɹˌə͡ʊmən tˈuː], \fjˌuːkəsɪdˈəʊsɪs tˈaɪp ɹˌəʊmən tˈuː], \f_j_ˌuː_k_ə_s_ɪ_d_ˈəʊ_s_ɪ_s t_ˈaɪ_p ɹ_ˌəʊ_m_ə_n_ t_ˈuː]\
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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)
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