Hurler syndrome
Natural Standard Bottom Line Monograph, Copyright © 2009 (www.naturalstandard.com). Commercial distribution prohibited. This monograph is intended for informational purposes only, and should not be interpreted as specific medical advice. You should consult with a qualified healthcare provider before making decisions about therapies and/or health conditions.
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Alpha-L-iduronidase, bone marrow transplant, claw hand, cord blood, enzyme replacement therapy, gargoylism, gibbus deformity, glucosomaminoglycans, Hurler's disease, Hurler-Scheie syndrome, laronidase, lysosomal enzymes, lysosomal storage disease, lysosomes, Mongolian spots, MPS I H, MPS H-S, MPS I S, mucopolysaccharides, mucopolysaccharidosis, Scheie syndrome. |
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Hurler syndrome is a rare, inherited disorder in which a hereditary factor, or gene, is defective. The gene affected is one that controls production of an enzyme, called alpha-L-iduronidase. As a result, patients with Hurler syndrome typically experience developmental abnormalities, learning difficulties, intellectual disabilities, and various types of organ dysfunction. |
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Enzymes are proteins that bring about chemical reactions in the body. Alpha-L-iduronidase is the enzyme responsible for the breakdown of large, complex sugar molecules called glucosaminoglycans (formerly called mucopolysaccharides). Glucosaminoglycans are found in most of the body's tissues and organs. Like most substances in the body, they are continually produced and broken down in order to maintain constant levels in the body. |
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Hurler syndrome is one of eleven disorders that are classified as mucopolysaccaharidoses (MPS). Different classes of MPS syndromes are categorized based on the specific enzyme deficiency involved in the complex chemical breakdown pathway of the glucosaminoglycans. Hurler syndrome is considered MPS type I. |
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Because patients with Hurler syndrome have defective alpha-L-iduronidase, glucosaminoglycans build up in abnormally large amounts throughout the body. |
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Content available for subscribers only.
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Content available for subscribers only.
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Content available for subscribers only.
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Content available for subscribers only.
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Content available for subscribers only.
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Natural Standard Monograph
(www.naturalstandard.com)
Copyright © 2009 Natural Standard Inc. Commercial distribution or
reproduction prohibited.
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The information in this monograph is intended for informational purposes
only, and is meant to help users better understand health concerns.
Information is based on review of scientific research data, historical
practice patterns, and clinical experience. This information should not be
interpreted as specific medical advice. Users should consult with a
qualified healthcare provider for specific questions regarding therapies,
diagnosis and/or health conditions, prior to making therapeutic decisions.
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