{"id":12115,"date":"2025-03-13T21:40:22","date_gmt":"2025-03-13T20:40:22","guid":{"rendered":"https:\/\/valintermed.com\/?p=12115"},"modified":"2025-03-13T21:40:22","modified_gmt":"2025-03-13T20:40:22","slug":"mukopolisaharidoz-1-tipa-mps-i-sindrom-gurler","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/mukopolisaharidoz-1-tipa-mps-i-sindrom-gurler\/","title":{"rendered":"Mucopolysaccharidosis type 1 (MPS I, Hurler syndrome)"},"content":{"rendered":"<div class=\"fpm_start\"><\/div>\n<p>Mucopolysaccharidosis type 1 (MPS I), also known as Hurler syndrome, is a rare inherited disorder belonging to the group of mucopolysaccharidoses, characterized by a deficiency of the enzyme alpha-iduronidase. This leads to the accumulation of mucopolysaccharides, which have a toxic effect on cells, which in turn causes a variety of pathological changes in organs and tissues. The disease manifests itself at various stages of development and can have a wide range of clinical manifestations, including disorders of the cardiovascular, respiratory, musculoskeletal and nervous systems. Hurler syndrome causes significant impairment of the quality of life of patients and has serious complications, including a decrease in life expectancy.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-flat ez-toc-counter ez-toc-light-blue ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Content<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewbox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" 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href=\"https:\/\/valintermed.com\/en\/medlibrary\/mukopolisaharidoz-1-tipa-mps-i-sindrom-gurler\/#%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\" >History of the disease and interesting historical facts<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mukopolisaharidoz-1-tipa-mps-i-sindrom-gurler\/#%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\" >Epidemiology<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mukopolisaharidoz-1-tipa-mps-i-sindrom-gurler\/#%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\" >Genetic predisposition to this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mukopolisaharidoz-1-tipa-mps-i-sindrom-gurler\/#%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Risk factors for the development of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mukopolisaharidoz-1-tipa-mps-i-sindrom-gurler\/#%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Diagnosis of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mukopolisaharidoz-1-tipa-mps-i-sindrom-gurler\/#%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\" >Treatment<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mukopolisaharidoz-1-tipa-mps-i-sindrom-gurler\/#%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >List of medications used to treat this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mukopolisaharidoz-1-tipa-mps-i-sindrom-gurler\/#%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Disease monitoring<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mukopolisaharidoz-1-tipa-mps-i-sindrom-gurler\/#%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Age-related features of the disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/mukopolisaharidoz-1-tipa-mps-i-sindrom-gurler\/#%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\" >Questions and Answers<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\"><\/span>History of the disease and interesting historical facts<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Hurler syndrome was first described in 1929 by the Austrian pediatrician Friedrich Hurler. He described a series of clinical cases characterized by progressive physical retardation, respiratory dysfunction, and typical facial changes. In 1962, a link was established between the disease and alpha-iduronidase deficiency, which opened up new horizons for understanding the pathogenesis and diagnosis of MPS I. An interesting fact is that despite the rarity of the disease, it was one of the first for which enzyme replacement therapy was developed, which significantly changed the approach to the treatment and management of the disease.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\"><\/span>Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Mucopolysaccharidosis type 1 has a low prevalence, occurring in approximately 1 in 100,000 newborns. However, the actual incidence of the disease may vary depending on the population. For example, Hurler syndrome is more common in some ethnic groups, particularly the Ashkenazi Jewish population. Studies suggest that the incidence may be as high as 1 in 77,000 among this group.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\"><\/span>Genetic predisposition to this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>MPS I is an inherited disorder caused by genetic mutations in the IDUA gene, which is located on chromosome 4. This gene encodes the alpha-iduronidase enzyme, which is necessary for the breakdown of mucopolysaccharides. Receptive mutations can cause the absence or insufficient activity of this enzyme, which leads to the accumulation of dermatan sulfate and heparan sulfate in cells. More than 200 different mutations have been identified in the IDUA gene, which causes a wide phenotypic spectrum of the disease.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Risk factors for the development of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The main risk factor for MPS I is a family history of the disease, which is associated with an autosomal recessive type of inheritance. If both parents are carriers of a mutation in the IDUA gene, the probability of having a sick child is 25%. Other potential risk factors that affect the severity of the clinical picture include:<\/p>\n<ul>\n<li>Level of alpha-iduronidase enzyme activity;<\/li>\n<li>Environmental influences, but specific exogenous factors associated with this disease have not been identified;<\/li>\n<li>Age of parents, as later births can potentially increase the risk of mutations.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Diagnosis of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Diagnosis of MPS I is based on a combination of clinical examination, laboratory and radiological studies. The main symptoms usually include:<\/p>\n<ul>\n<li>Connective tissue dysplasia;<\/li>\n<li>Large-scale changes in the musculoskeletal system;<\/li>\n<li>Cardiovascular problems;<\/li>\n<li>Developmental disorders and growth retardation.<\/li>\n<\/ul>\n<p>Laboratory tests are aimed at determining alpha-iduronidase activity in leukocytes or fibroblast cultures, which helps confirm the diagnosis. Radiological examination may include X-rays and ultrasound diagnostics to detect skeletal abnormalities. Differential diagnosis should be made with other forms of mucopolysaccharidoses and diseases associated with metabolic disorders.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\"><\/span>Treatment<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Treatment of mucopolysaccharidosis type 1 involves a multidisciplinary approach aimed at relieving symptoms and preventing complications. Key approaches include:<\/p>\n<ul>\n<li>Enzyme replacement therapy, which helps restore alpha-iduronidase levels;<\/li>\n<li>Surgical intervention to correct musculoskeletal abnormalities;<\/li>\n<li>Supportive therapy to improve quality of life.<\/li>\n<\/ul>\n<p>Pharmacological treatment may also include medications to control symptoms of associated conditions, such as joint pain or cardiac problems.<\/p><script data-noptimize=\"\" data-wpfc-render=\"false\">\nfpm_start( \"true\" );\n<\/script>\n\n<h2><span class=\"ez-toc-section\" id=\"%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>List of medications used to treat this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li>Laronidase (Aldurazyme) is an enzyme replacement therapy;<\/li>\n<li>Drug school for pain and inflammation control;<\/li>\n<li>Cardioprotectors for patients with cardiovascular problems.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Disease monitoring<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Monitoring of patients with mucopolysaccharidosis type I includes regular assessment of organ and system function, symptom monitoring, and evaluation of treatment effectiveness. The prognosis of the disease varies, but without treatment, significant reduction in life expectancy is observed in most patients. Complications may include:<\/p>\n<ul>\n<li>Cardiovascular problems;<\/li>\n<li>Delayed development and physical growth;<\/li>\n<li>Dysfunction of the organs of hearing and vision.<\/li>\n<\/ul>\n<p>Monitoring steps include regular check-ups with specialists such as geneticists, orthopedists and cardiologists.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Age-related features of the disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The course of mucopolysaccharidosis type 1 can vary significantly in different age groups. In newborns and infants, the disease may present with respiratory problems and liver enlargement. Older children often have more pronounced cystic changes in the organs, impaired physical development, and mental retardation. Adult patients often experience progressive musculoskeletal problems and cardiovascular complications.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\"><\/span>Questions and Answers<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li><strong>What are the main symptoms of mucopolysaccharidosis type 1?<\/strong> The main symptoms include developmental delays, changes in facial structure, joint problems and respiratory problems.<\/li>\n<li><strong>How many people have mucopolysaccharidosis type 1?<\/strong> The incidence is approximately 1 case per 100,000 live births, but may be higher in certain populations.<\/li>\n<li><strong>What is the role of genetics in this disease?<\/strong> MPS I is a hereditary disease associated with mutations in the IDUA gene and is transmitted in an autosomal recessive manner.<\/li>\n<li><strong>How is mucopolysaccharidosis type 1 diagnosed?<\/strong> Diagnosis includes laboratory tests for alpha-iduronidase levels and a clinical examination to identify characteristic symptoms.<\/li>\n<li><strong>What treatment is available for patients with this condition?<\/strong> Treatment includes enzyme replacement therapy, orthopedic care, and supportive care to improve quality of life.<\/li>\n<\/ul>\n<div class=\"fpm_end\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Mucopolysaccharidosis type 1 (MPS I), also known as Hurler syndrome, is a rare inherited disorder belonging to the group of mucopolysaccharidoses, characterized by<\/p>","protected":false},"author":1,"featured_media":20922,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[298],"tags":[],"class_list":["post-12115","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medlibrary"],"_links":{"self":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/12115","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/comments?post=12115"}],"version-history":[{"count":1,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/12115\/revisions"}],"predecessor-version":[{"id":15005,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/12115\/revisions\/15005"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media\/20922"}],"wp:attachment":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media?parent=12115"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/categories?post=12115"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/tags?post=12115"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}