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... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mucopolysaccharidoses > Mucopolysaccharidosis I
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mucopolysaccharidoses > Mucopolysaccharidosis I
Skin and Connective Tissue Diseases > Connective Tissue Diseases > Mucinoses > Mucopolysaccharidoses > Mucopolysaccharidosis I
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mucopolysaccharidoses > Mucopolysaccharidosis I
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mucopolysaccharidoses > Mucopolysaccharidosis I

Terme préférentiel

Mucopolysaccharidosis I  

Type

  • mesh:Descriptor

Définition

  • Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.

Concept générique

Concepts associés

Synonyme(s)

  • Lipochondrodystrophy
  • Mucopolysaccharidosis 1
  • Mucopolysaccharidosis Type I

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-T2V99BDP-N

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 21/10/2015