| fucosidosis | An autosomally recessive inherited metabolic disorder in which deficiency of alpha-1-fucosidase activity results in accumulation of fucose-containing sphingolipids, glycoproteins, and mucopolysaccharides in lysosomes. (12 Dec 1998) |
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Synonyms : Deficiency Disease, alpha-Fucosidase, Deficiency Disease, alpha-L-Fucosidase, Fucosidosis Type I, Fucosidosis Type II, Fucosidosis, Infantile, Fucosidosis, Juvenile, alpha-Fucosidase Deficiency Disease, alpha-L-Fucosidase Deficiency Disease
| fucosidosis |
a lysosomal storage disease caused by defective α-L-fucosidase and accumulation of fucose-containing glycoconjugates. Clinical symptoms include psychomotor deterioration, growth retardation, hepatosplenomegaly, cardiomegaly, and seizures. There are two clinical types based on age of onset: Type I, the fatal infantile type, has age of onset by 18 months and causes death before six years of age. Marked increase of sodium chloride in sweat is an additional feature. Type II, the juvenile form, has age of onset by four years of age and slower psychomotor and neurologic deterioration; patients survive to their twenties.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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