FUCOSIDOSIS TYPE I
\fjˌuːkəsɪdˈə͡ʊsɪs tˈa͡ɪp ˈa͡ɪ], \fjˌuːkəsɪdˈəʊsɪs tˈaɪp ˈaɪ], \f_j_ˌuː_k_ə_s_ɪ_d_ˈəʊ_s_ɪ_s t_ˈaɪ_p ˈaɪ]\
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
Word of the day
Vertebral Artery Dissection
- Dissection wall artery, leading to formation an aneurysm that occlude vessel. Thrombus give rise emboli. Cervical fractures or related NECK INJURIES and CRANIOCEREBRAL TRAUMA are commonly associated conditions, although this process may occur spontaneously. Ischemia, infarction, hemorrhage in the vascular distribution of affected vertebral artery complicate condition.