mucopolysaccharidosis

• Qualquer doença genética caracterizada por distúrbio no metabolismo dos mucopolissacarídeos, levando a níveis anormalmente altos dessas substâncias nos tecidos.

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.

   Doença metabólica genética

   • 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.

   Sinônimosmps