{"id":22216,"date":"2022-08-30T12:50:53","date_gmt":"2022-08-30T12:50:53","guid":{"rendered":"https:\/\/catweb.ro\/babydetect\/?p=22216"},"modified":"2024-01-16T20:22:55","modified_gmt":"2024-01-16T20:22:55","slug":"mucopolysaccharidosis-type-vii-gusb-gene","status":"publish","type":"post","link":"https:\/\/www.babydetect.be\/en\/mucopolysaccharidosis-type-vii-gusb-gene\/","title":{"rendered":"Mucopolysaccharidosis Type VII"},"content":{"rendered":"<p><strong>GUSB gene<\/strong><\/p>\n<p><u>Also known as<\/u>: Sly syndrome; Beta-glucuronidase deficiency; GUSB deficiency; MPS VII<\/p>\n<p><strong>OMIM#253220 <\/strong><a href=\"https:\/\/omim.org\/entry\/253200\"><strong>https:\/\/omim.org\/entry\/253220<\/strong><\/a><\/p>\n<h4>1. The Disease:<\/h4>\n<p>Mucopolysaccharidosis VII (MPS VII), also known as Sly syndrome, is a rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe.<\/p>\n<h4>2. The Symptoms<strong>:<\/strong><\/h4>\n<p>Babies can be <strong><em>asymptomatic<\/em><\/strong> at birth and in the neonatal period. The most consistent clinical features include: musculoskeletal involvement (particularly dysostosis multiplex, joint restriction, thorax abnormalities, and short stature), limited vocabulary, intellectual disability; coarse face with short neck, corneal clouding, pulmonary involvement (predominantly decreased pulmonary function) and cardiac valve disease. <em>Lack of early signs or symptoms does not exclude the diagnosis. <\/em><\/p>\n<ul>\n<li><em><u>Signs are extremely variable<\/u><\/em>: there are <em>prenatal forms<\/em> <em>with non-immune hydrops fetalis<\/em>, and severe neonatal forms with dysmorphism, hernias, hepatosplenomegaly, club feet, dysostosis, small stature and severe hypotonia and neurological involvement that ultimately lead to profound intellectual deficit in patients who survive.<\/li>\n<li>At the other end of the spectrum, there are very mild cases that are discovered during adolescence or adulthood following presentation with thoracic kyphosis.<\/li>\n<\/ul>\n<h4>3. Actions to take in case of early diagnosis:<\/h4>\n<ul>\n<li>Early treatment is essential in preventing chronic symptoms.<\/li>\n<li>Babies should have confirmatory MPS VII test through the measurement of beta-D-glucuronidase activity in dried blood spot or isolated leukocytes (a level of &lt;10% of the lower limit of normal is consistent with a diagnosis).<\/li>\n<li>Analysis of urinary GAGs can also help showing the increased levels of urinary dermatan sulfate (DS), heparan sulfate (HS), and chondroitin sulfate (CS), (either CS alone or CS+HS+DS) excretion, although this sign may be absent in adult forms<\/li>\n<li>As the clinical manifestations of MPS VII are multisystemic, a multidisciplinary approach is required to proactively recognize and manage complications. Routine assessment of various affected organs is necessary, and each specialist in the multidisciplinary team should oversee continuing evaluations once a clinical problem is identified.<\/li>\n<li>While there is no cure, treatments such as enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) can help make MPS VII a more manageable disease. Enzyme replacement therapy (ERT) with recombinant human beta-glucuronidase has been approved in Europe for MPS type 7 and has shown improvement in walking, lung function and hepatosplenomegaly in clinical trials. The HSCT has been successful in some patients and more data is needed.<\/li>\n<li>As symptoms progress, surgeries (e.g.,shunting for hydrocephalus, tonsillectomy and adenoidectomy, positive pressure ventilation &#8211; CPAP or tracheostomy, carpal tunnel release, cardiac valve replacement, hip replacement) may be recommended to improve quality of life.<\/li>\n<li>Genetic counseling is highly recommended for family planning and evaluation of at-risk family members such as siblings.<\/li>\n<\/ul>\n<h4>4. For more information<\/h4>\n<p><strong>Orphanet:<\/strong> <a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=40&amp;Disease_Disease_Search_diseaseGroup=sly-syndrome&amp;Disease_Disease_Search_diseaseType=Pat&amp;Disease(s)\/group%20of%20diseases=Mucopolysaccharidosis-type-7&amp;title=Mucopolysaccharidosis%20type%207&amp;search=Disease_Search_Simple\">https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=40&amp;Disease_Disease_Search_diseaseGroup=sly-syndrome&amp;Disease_Disease_Search_diseaseType=Pat&amp;Disease(s)\/group%20of%20diseases=Mucopolysaccharidosis-type-7&amp;title=Mucopolysaccharidosis%20type%207&amp;search=Disease_Search_Simple<\/a><\/p>\n<p><strong>Biblio:<\/strong><\/p>\n<ul>\n<li>Monta\u00f1o AM, Lock-Hock N, Steiner RD, et al. Clinical course of sly syndrome (mucopolysaccharidosis type VII). J Med Genet. 2016;53(6):403-418. PMID: PMID: 26908836.<\/li>\n<li>Taylor M, Khan S, Stapleton M, et al. Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future. Biol Blood Marrow Transplant. 2019;25(7). PMID: 3077251<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>GUSB gene Also known as: Sly syndrome; Beta-glucuronidase deficiency; GUSB deficiency; MPS VII OMIM#253220 https:\/\/omim.org\/entry\/253220 1. The Disease: Mucopolysaccharidosis VII (MPS VII), also known as Sly syndrome, is a rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe&#8230;.<\/p>\n","protected":false},"author":1,"featured_media":21845,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[40],"tags":[],"_links":{"self":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22216"}],"collection":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/comments?post=22216"}],"version-history":[{"count":2,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22216\/revisions"}],"predecessor-version":[{"id":23817,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22216\/revisions\/23817"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media\/21845"}],"wp:attachment":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media?parent=22216"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/categories?post=22216"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/tags?post=22216"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}