More than 500 patients with mucopolysaccharidosis type IH (MPS IH; Hurler syndrome) have been treated with hematopoietic cell transplantation (HCT) throughout the world since the introduction of transplantation as therapy almost 30 years ago. More recently, the availability of recombinant alpha-L-iduronidase (IDUA) has resulted in the widespread treatment of less severe forms of MPS I with enzy...

Mucopolysaccharidosis I (MPS I) is a rare inherited disorder characterized by physical deformities and developmental anomalies. Part of a group of clinically progressive disorders, it is caused by the deficiency of the lysosomal enzyme, α-L -iduronidase, which results in intralysosomal accumulation of dermatan sulfate and heparan sulfate and in turn causes cell dysfunction. Two sisters, one 11 ...

OBJECTIVE The first line-screening test for mucopolysaccharidosis is based on measurement of urinary glycosaminoglycans. The most reliable test for measurement of urine glycosaminoglycans is the 1,9-dimethyleneblue colorimetric assay. Biological markers are affected by ethnical factors, for this reason, the World Health Organization recommends that the diagnostic test characteristics should be ...

Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive lysosomal storage disorder caused by a deficiency or absence of α--iduronidase, which is involved in the catabolism of glycosaminoglycans (GAGs). This deficiency leads to the accumulation of GAGs in several organs. Given the wide spectrum of the disease, MPS-I has historically been classified into 3 clinical subtypes - severe (Hurle...

Mucopolysaccharidosis (MPS) is a group of metabolic disorders caused by the deficiency or complete absence certain lysosomal enzymes responsible for breakdown mucopolysaccharides, causing an accumulation glycosaminoglycans (GAGs) throughout body. type I (MPS I), also called Hurler syndrome, autosomal recessive storage disorder resulting from enzyme α-L-iduronidase. This report aims to present c...

BACKGROUND Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease due to deficiency of α-L-iduronidase (IDUA), a lysosomal enzyme that degrades glycosaminoglycans (GAG) heparan and dermatan sulfate. To achieve optimal clinical outcomes, early and proper treatment is essential, which requires early diagnosis and phenotype severity prediction. RESULTS To establish a genotype/phe...

Pag. 1 Background 2 1. Lysosomal storage disease 2 Pathogenetic events in lysosomal storage diseases 2 New therapeutic options for lysosomal storage diseases 5 Gene therapy by retroviral vectors 10 2. Mucopolysaccharidosis IIIB 14 Aims of the PhD thesis 16 Matherials and Methods 17 Chemicals 17 Animals 17 Western Blotting 17 Primary cortical neuronal cultures 18 Confocal immunofluorescence anal...