Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome
(mucopolysaccharidosis type I).
Patients with Hurler-Scheie syndrome
may suffer from mild cognitive impairment or problems with attention.
Deficiency of this enzyme results into a wide range of phenotypes including Hurler syndrome, Hurler-Scheie syndrome
(OMIM 607015) and Scheie syndrome (OMIM 607016), severe, intermediate and mild forms, respectively (3).
21 of complications from Hurler-Scheie syndrome
. She was 43.
(Cambridge, MA) announced the issuance of a third United States patent involving the lysosomal enzyme alpha-L-iduronidase (IDUA), which is deficient in persons suffering from mucopolysaccharidosis type I (MPS I), also referred to as Hurler syndrome, Hurler-Scheie syndrome
, or Scheie syndrome.
- US-based biotechnology company ArmaGen, Inc has reported preliminary evidence of cognitive improvement in children treated with AGT-181, the company's investigational therapy for the treatment of Hurler and Hurler-Scheie syndrome
(also known as mucopolysaccharidosis type I, or MPS I), the company said.
(12) could determine [alpha]-Liduronidase activity in DBS and thus identify patients with mucopolysaccharidosis type I (MPS-I), representing all three clinical subtypes of Hurler, Scheie, and Hurler-Scheie syndromes
. Subsequent reports showed detection of several additional LSDs in DBS by this method, including Pompe, Fabry, Gaucher, Sandhoff, Nieman-Pick, and Tay-Sachs disease (13-16).