mucopolysaccharidosis

• Groupe de maladies génétiques rares caractérisées par un déficit enzymatique entraînant une accumulation anormale de mucopolysaccharides dans les tissus de l'organisme. Elles se manifestent par des atteintes osseuses, viscérales et parfois neurologiques.

Any of a group of genetic disorders characterized by a defect in the metabolism of mucopolysaccharides, leading to abnormally high levels of these substances in tissues.

1. Genetic metabolic disorderC2formalmedical

   Any of a group of inherited diseases caused by a deficiency of enzymes needed to break down mucopolysaccharides, leading to their accumulation in tissues and causing various physical and neurological symptoms.

   Mucopolysaccharidose

   • Mucopolysaccharidosis type I is also known as Hurler syndrome.
   • Children with mucopolysaccharidosis often require enzyme replacement therapy.
   • The diagnosis of mucopolysaccharidosis is confirmed through genetic testing.

   Synonymesmps