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Book

Hurler Syndrome

Raghachaitanya Sakuru  1 , Pradeep C. Bollu  1
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
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Book

Hurler Syndrome

Raghachaitanya Sakuru et al.
Free Books & Documents

Excerpt

Hurler syndrome was first described by German pediatrician, Gertrud Hurler in 1919. It is one of the 11 disorders of the mucopolysaccharidoses (MPS). Hurler syndrome is considered as mucopolysaccharidosis type I (MPH I) and formerly known as gargoylism. In 1962, a milder form of MPS I was identified and named as Scheie syndrome.

It is an inherited lysosomal disorder caused by the absence of alpha-L-iduronidase enzyme which responsible for degradation of glycosaminoglycans (GAG or mucopolysaccharides). This leads to a buildup of dermatan sulfate and heparin sulfate in multiple tissues, resulting in progressive deterioration and, eventually, death.

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Conflict of interest statement

Disclosure: Raghachaitanya Sakuru declares no relevant financial relationships with ineligible companies.

Disclosure: Pradeep Bollu declares no relevant financial relationships with ineligible companies.

References

    1. Moore D, Connock MJ, Wraith E, Lavery C. The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J Rare Dis. 2008 Sep 16;3:24. - PMC - PubMed
    1. Braunlin E, Steinberger J, DeFor T, Orchard P, Kelly AS. Metabolic Syndrome and Cardiovascular Risk Factors after Hematopoietic Cell Transplantation in Severe Mucopolysaccharidosis Type I (Hurler Syndrome). Biol Blood Marrow Transplant. 2018 Jun;24(6):1289-1293. - PubMed
    1. Horovitz DD, Magalhães Tde S, Pena e Costa A, Carelli LE, Souza e Silva D, de Linhares e Riello AP, Llerena JC. Spinal cord compression in young children with type VI mucopolysaccharidosis. Mol Genet Metab. 2011 Nov;104(3):295-300. - PubMed
    1. Harrison R, Schaefer S, Warner L, Mercer J, Jones S, Bruce I. Transnasal adenoidectomy in mucopolysaccharidosis. Int J Pediatr Otorhinolaryngol. 2018 Aug;111:149-152. - PubMed
    1. Mesolella M, Cimmino M, Cantone E, Marino A, Cozzolino M, Della Casa R, Parenti G, Iengo M. Management of otolaryngological manifestations in mucopolysaccharidoses: our experience. Acta Otorhinolaryngol Ital. 2013 Aug;33(4):267-72. - PMC - PubMed

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