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Hurler syndrome

Alternative Names: Alpha-L-iduronate deficiency; Mucopolysaccharidosis type I; MPS I; Hurler-Scheie Syndrome (MPS 1 H/S); Scheie Syndrome (MPS1S) Symptoms: The symptoms of intermediate MPS1 usually develop between 3 and 8 years of age. Survival into adult life is common. Infants with severe MPS1 appear normal at birth. Coarsening of facial features is noted during the first two years of life. Symptoms are progressive and include: Halted growth Progressive  mental retardation Thick, coarse facial features with low nasal bridge Cloudy corneas Deafness Joint disease, including stiffness Heart value problems Abnormal bones of spine and claw hand Signs and tests: Tests that may be performed include:   Urine testing for mucoploysacchariduria (heparan and dermatan sulphate). Urine studies are usually conducted first. They may show excess MPS when present, but can not determine the exact form of MPS. A definite diagnosis relies on specific enzyme testing.  Alpha-L-Iduronidase testing in blood, skin or plasma Molecular genetic testing for the Alpha-L-Iduronidatase (IDUA) gene Spine x-ray EKG  References: Staba SL, Escolar ML, Poe M, et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med. 2004 May 6;350(19):1960-9. Text Continues Below National Institute of Neurological Disorders and Stroke. Mucolipidoses Fact Sheet. Office of Communications and Public Liaison. Bethesda, MD; Publication No. 05-4899. February 9, 2005.

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