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Foot and ankle abnormalities in the hurler syndrome

Discussion in 'General Issues and Discussion Forum' started by NewsBot, Jun 12, 2013.

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  1. NewsBot

    NewsBot The Admin that posts the news.

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    Foot and ankle abnormalities in the hurler syndrome: additions to the phenotype.
    Kennedy J, Noel J, O'Meara A, Kelly P.
    J Pediatr Orthop. 2013 Jul-Aug;33(5):558-62.
     
  2. Admin2

    Admin2 Administrator Staff Member

    Hurler syndrome

    Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes. The inability to break down these molecules results in a wide variety of symptoms caused by damage to several different organ systems, including but not limited to the nervous system, skeletal system, eyes, and heart.

    The underlying mechanism is a deficiency of alpha-L iduronidase, an enzyme responsible for breaking down GAGs.[1]: 544  Without this enzyme, a buildup of dermatan sulfate and heparan sulfate occurs in the body. Symptoms appear during childhood, and early death usually occurs. Other, less severe forms of MPS Type I include Hurler–Scheie syndrome (MPS-IHS) and Scheie syndrome (MPS-IS).

    Hurler syndrome is classified as a lysosomal storage disease. It is clinically related to Hunter syndrome (MPS II);[2] however, Hunter syndrome is X-linked, while Hurler syndrome is autosomal recessive.

    1. ^ James WD, Berger TG, et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
    2. ^ "Mucopolysaccharidoses Fact Sheet". National Institute of Neurological Disorders and Stroke. 15 Nov 2017. Retrieved 11 May 2018.
     
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