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| Descriptor en español: |
Fucosidosis
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| Descriptor en inglés: | Fucosidosis | ||||||
| Descriptor en portugués: | Fucosidose | ||||||
| Descriptor en francés: | Fucosidose | ||||||
| Término(s) alternativo(s): |
Alpha-Fucosidase Deficiency Deficiency Disease, Fucosidase Deficiency Disease, alpha Fucosidase Deficiency Disease, alpha L Fucosidase Deficiency Disease, alpha-Fucosidase Deficiency Disease, alpha-L-Fucosidase Deficiency Diseases, Fucosidase Deficiency Diseases, alpha-Fucosidase Deficiency Diseases, alpha-L-Fucosidase Disease, Fucosidase Deficiency Disease, alpha-Fucosidase Deficiency Disease, alpha-L-Fucosidase Deficiency Diseases, Fucosidase Deficiency Diseases, alpha-Fucosidase Deficiency Diseases, alpha-L-Fucosidase Deficiency Fucosidase Deficiency Fucosidase Deficiency Disease Fucosidase Deficiency Diseases Fucosidosis Type 1 Fucosidosis Type 1s Fucosidosis Type I Fucosidosis Type II Fucosidosis, Infantile Fucosidosis, Juvenile Infantile Fucosidosis Juvenile Fucosidosis Type 1, Fucosidosis Type 1s, Fucosidosis alpha Fucosidase Deficiency Disease alpha L Fucosidase Deficiency Disease alpha-Fucosidase Deficiency Disease alpha-Fucosidase Deficiency Diseases alpha-L-Fucosidase Deficiency alpha-L-Fucosidase Deficiency Disease alpha-L-Fucosidase Deficiency Diseases |
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| Código(s) jeráquico(s): |
C10.228.140.163.100.435.295 C16.320.565.189.435.295 C16.320.565.202.303 C16.320.565.595.554.295 C18.452.132.100.435.295 C18.452.648.189.435.295 C18.452.648.202.303 C18.452.648.595.554.295 |
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| Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D005645 | ||||||
| Nota de alcance: | 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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| Calificadores permitidos: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Indexación anterior: |
Carbohydrate Metabolism, Inborn Errors (1966-1984) Fucose (1966-1984) Fucosidase (1975-1984) |
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| Nota Pública de MeSH: | 1985 |
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| Nota de historia: | 1985 |
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| Vea también los descriptores: |
alpha-L-Fucosidase
MeSH | ||||||
| Identificador de DeCS: | 5780 | ||||||
| ID del Descriptor: | D005645 | ||||||
| Documentos indizados en la Biblioteca Virtual de Salud (BVS): | Haga clic aquí para acceder a los documentos de la BVS | ||||||
| Fecha de establecimiento: | 01/01/1985 | ||||||
| Fecha de entrada: | 29/05/1984 | ||||||
| Fecha de revisión: | 28/06/2016 |
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Fucosidosis
- Concepto preferido
Fucosidosis Type I
- Más estrecho
Fucosidosis Type II
- Más estrecho
| UI del concepto |
M0008875 |
| Nota de alcance | 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) |
| Término preferido | Fucosidosis |
| Término(s) alternativo(s) |
Alpha-Fucosidase Deficiency Deficiency Disease, Fucosidase Deficiency Disease, alpha Fucosidase Deficiency Disease, alpha L Fucosidase Deficiency Disease, alpha-Fucosidase Deficiency Disease, alpha-L-Fucosidase Deficiency Diseases, Fucosidase Deficiency Diseases, alpha-Fucosidase Deficiency Diseases, alpha-L-Fucosidase Disease, Fucosidase Deficiency Disease, alpha-Fucosidase Deficiency Disease, alpha-L-Fucosidase Deficiency Diseases, Fucosidase Deficiency Diseases, alpha-Fucosidase Deficiency Diseases, alpha-L-Fucosidase Deficiency Fucosidase Deficiency Fucosidase Deficiency Disease Fucosidase Deficiency Diseases alpha Fucosidase Deficiency Disease alpha L Fucosidase Deficiency Disease alpha-Fucosidase Deficiency Disease alpha-Fucosidase Deficiency Diseases alpha-L-Fucosidase Deficiency alpha-L-Fucosidase Deficiency Disease alpha-L-Fucosidase Deficiency Diseases |
| UI del concepto |
M0335151 |
| Término preferido | Fucosidosis Type I |
| Término(s) alternativo(s) |
Fucosidosis Type 1 Fucosidosis Type 1s Fucosidosis, Infantile Infantile Fucosidosis Type 1, Fucosidosis Type 1s, Fucosidosis |
| UI del concepto |
M0335152 |
| Término preferido | Fucosidosis Type II |
| Término(s) alternativo(s) |
Fucosidosis, Juvenile Juvenile Fucosidosis |
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