FUCOSIDASE DEFICIENCY DISEASE
\fjˈuːkəsˌɪde͡ɪs dɪfˈɪʃənsi dɪzˈiːz], \fjˈuːkəsˌɪdeɪs dɪfˈɪʃənsi dɪzˈiːz], \f_j_ˈuː_k_ə_s_ˌɪ_d_eɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
Sort: Oldest first
-
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)
By DataStellar Co., Ltd
