Mucopolysaccharidosis type I (Hurler, Hurler-Scheie and Scheie syndromes)
Autoszomális recesszív
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.
Mit változtat a diagnózis
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.
Vizsgált gének
Más néven
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)
3 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- Hurler syndrome
- Hurler-Scheie syndrome
- Scheie syndrome
