Hurler syndrome (mucopolysaccharidosis type I)

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]