TERMIUM Plus®

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SYNDROME HUNTER [1 record]

Record 1 2019-11-21

English

Subject field(s)
  • Human Diseases - Various
  • Genetics
CONT

Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to progressive accumulation of glycosaminoglycans in nearly all cell types, tissues and organs. Clinical manifestations include severe airway obstruction, skeletal deformities, cardiomyopathy and, in most patients, neurological decline.

Key term(s)
  • MPSII
  • mucopolysaccharidosis type 2
  • mucopolysaccharidosis 2
  • MPS2

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
CONT

La mucopolysaccharidose de type II est une maladie évolutive, progressive [et] multisystémique. […] Il s'agit d'une maladie génétique transmise sur le mode récessif lié au chromosome X.

Key term(s)
  • MPSII
  • mucopolysaccharidose de type 2
  • MPS2

Spanish

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