Mucopolysaccharidosis type I (Hurler, Hurler-Scheie and Scheie syndromes)
Autozomálně recesivní
Deficiency of alpha-L-iduronidase causes glycosaminoglycans to build up, leading to coarse facial features, skeletal changes, joint stiffness, corneal clouding, heart valve disease and, in Hurler syndrome, developmental decline.
Co se diagnózou změní
Early diagnosis allows haematopoietic stem cell transplant in severe Hurler syndrome and enzyme replacement therapy (laronidase) for all forms; MPS I is included in some newborn screening programmes.
Analyzované geny
Známé také jako
Alpha-L-iduronidase deficiency; attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome); Hurler syndrome; Hurler syndrome (subtype); Hurler-Scheie syndrome (subtype); IDUA deficiency; lipochondrodystrophy; MPS 1; MPS I; MPS1; MPSI; Mucopolysaccharidosis Type I; Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V); severe MPS I (subtype, also known as Hurler syndrome)
Zahrnuje 3 příbuzných podtypů ↓Skrýt podtypy ↑
- Hurler syndrome
- Hurler-Scheie syndrome
- Scheie syndrome
