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https://www.um.edu.mt/library/oar/handle/123456789/95661| Title: | Hurler syndrome (mucopolysaccharidosis type I) |
| Authors: | Grech, Reuben Galvin, Leo O’Hare, Alan Looby, Seamus |
| Keywords: | Mucopolysaccharidosis I -- Case studies Lysosomal storage diseases -- Diagnosis Cervical cord -- Tomography |
| Issue Date: | 2013 |
| Publisher: | BMJ Group |
| Citation: | Grech, R., Galvin, L., O'Hare, A., & Looby, S. (2013). Hurler syndrome (mucopolysaccharidosis type I). BMJ Case Reports, 2013, bcr2012008148. |
| Abstract: | DESCRIPTION: Hurler syndrome is a rare lysosomal storage disorder with a prevalence of 1 in 100 000. It is caused by a defective IDUA gene which codes for α-L iduronidase and has an autosomal recessive inheritance. Enzyme deficiency results in accumulation of dermatan and heparan sulfate in multiple tissues which leads to progressive deterioration and eventual death. The condition manifests with profound intellectual disability, corneal clouding, cardiac disease and characteristic musculoskeletal manifestations. Affected individuals have coarse facial features including a low nasal bridge and excessive hair growth. Additional symptoms include hearing loss, recurrent respiratory infections, ‘claw’ hand deformities and macroglossia. [excerpt] |
| URI: | https://www.um.edu.mt/library/oar/handle/123456789/95661 |
| Appears in Collections: | Scholarly Works - FacM&SCRNM |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Hurler_syndrome_mucopolysaccharidosis_type_I_2013.pdf Restricted Access | 119.59 kB | Adobe PDF | View/Open Request a copy |
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