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Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Fucosidosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Fucosidosis
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Fucosidosis
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Fucosidosis
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Fucosidosis
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Fucosidosis
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Fucosidosis
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Fucosidosis

Preferred term

Fucosidosis  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Alpha-Fucosidase Deficiency
  • alpha Fucosidase Deficiency Disease
  • alpha-Fucosidase Deficiency Disease
  • alpha-Fucosidase Deficiency Diseases
  • alpha-L-Fucosidase Deficiency
  • alpha L Fucosidase Deficiency Disease
  • alpha-L-Fucosidase Deficiency Disease
  • alpha-L-Fucosidase Deficiency Diseases
  • Deficiency Disease, alpha Fucosidase
  • Deficiency Disease, alpha-Fucosidase
  • Deficiency Disease, alpha L Fucosidase
  • Deficiency Disease, alpha-L-Fucosidase
  • Deficiency Disease, Fucosidase
  • Deficiency Diseases, alpha-Fucosidase
  • Deficiency Diseases, alpha-L-Fucosidase
  • Deficiency Diseases, Fucosidase
  • Disease, alpha-Fucosidase Deficiency
  • Disease, alpha-L-Fucosidase Deficiency
  • Disease, Fucosidase Deficiency
  • Diseases, alpha-Fucosidase Deficiency
  • Diseases, alpha-L-Fucosidase Deficiency
  • Diseases, Fucosidase Deficiency
  • Fucosidase Deficiency
  • Fucosidase Deficiency Disease
  • Fucosidase Deficiency Diseases

Scope note

  • 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)

History note

  • 1985

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URI

http://www.yso.fi/onto/mesh/D005645

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