| Literature DB >> 25134498 |
Arpita Rai Thakur1, Venkatesh G Naikmasur, Atul Sattur.
Abstract
Hurler syndrome is a disorder of mucopolysaccharide metabolism caused due to inherited deficiencies of lysosomal α-l-iduronidase activity. We present a case of a 15-year-old male patient presenting with clinical and laboratory characteristics of the syndrome. A rare combination of skeletal, ophthalmologic, and dental findings was observed in this patient. Mucopolysaccharides excretion spot test of urine was positive and an assay of alpha-l-iduronidase enzyme was deficient, confirming the clinical diagnosis of Hurler syndrome.Entities:
Mesh:
Year: 2014 PMID: 25134498 DOI: 10.1007/s00256-014-1982-7
Source DB: PubMed Journal: Skeletal Radiol ISSN: 0364-2348 Impact factor: 2.199