Disease or Syndrome
fucosidosis
Subclass of:
Lysosomal Storage Diseases, Nervous System;
Carbohydrate Metabolism, Inborn Errors
Definitions related to fucosidase deficiency disease:
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(fucosidosis) 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)NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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(fucosidosis) Lysosomal storage disease caused by defective alpha-L-fucosidase and accumulation of fucose containing glycoconjugates; clinical symptoms include psychomotor deterioration, growth retardation, hepatosplenomegaly, cardiomegaly, and seizures.CRISP ThesaurusNational Institutes of Health, 2006
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Fucosidosis is a lysosomal storage disease that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. People with this condition often have delayed development of motor skills such as walking, and the skills they do acquire...National Center for Advancing Translational Sciences
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