Mucopolysaccharidosis (MPS) is a group of rare metabolic genetic disorders. Although individually rare, this group of disorders has been notably reported to be amongst the commonest metabolic causes of mental retardation in India. MPS group of disorders is well-known to be diagnosed late; partly because of its multifarious presentations which mimic with other commoner conditions. Treatment options are now available for various MPSs, thus putting the onus of early diagnosis on the treating physician. This blog is an ode to the master-of-guises, mucopolysaccharidosis!<\/p>\n\n\n\n
Today we wish to spread the word about the \u2018master of guises\u2019, Early hernia surgery, stiff joints without pain and developmental delay, Think of MPS 2<\/strong> if you find a matching phenotype, No coarseness, no organs on palpation, but treated for ADHD; I scratch my head, MPS 4<\/strong> should be on your radar, if you see a rachitic child not getting okay with Vitamin D (not to forget the platyspondyly).<\/p>\n\n\n\n Clouded cornea, skeletal dysostosis, short in height, could be features of many MPSs; but do keep in mind MPS 6<\/strong>.<\/p>\n\n\n\n Facial coarseness in the neonatal period, is it I-cell disease<\/strong> or is it MPS 7<\/strong>? Don\u2019t stop at the GAG report, do the mutation profile, Think of them early, think of them quick, This poem first appeared online on Pediatric Oncall on 17 May 2018<\/strong>.<\/p>\n","protected":false},"excerpt":{"rendered":" Background Mucopolysaccharidosis (MPS) is a group of rare metabolic genetic disorders. Although individually rare, this group of disorders has been notably reported to be amongst the commonest metabolic causes of mental retardation in India. MPS group of disorders is well-known to be diagnosed late; partly because of its multifarious presentations which mimic with other commoner […]<\/p>\n","protected":false},"author":1,"featured_media":111,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[],"tags":[],"class_list":["post-110","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry"],"_links":{"self":[{"href":"https:\/\/geneticsinindia.com\/blog\/index.php\/wp-json\/wp\/v2\/posts\/110","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/geneticsinindia.com\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/geneticsinindia.com\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/geneticsinindia.com\/blog\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/geneticsinindia.com\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=110"}],"version-history":[{"count":1,"href":"https:\/\/geneticsinindia.com\/blog\/index.php\/wp-json\/wp\/v2\/posts\/110\/revisions"}],"predecessor-version":[{"id":112,"href":"https:\/\/geneticsinindia.com\/blog\/index.php\/wp-json\/wp\/v2\/posts\/110\/revisions\/112"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/geneticsinindia.com\/blog\/index.php\/wp-json\/wp\/v2\/media\/111"}],"wp:attachment":[{"href":"https:\/\/geneticsinindia.com\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=110"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/geneticsinindia.com\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=110"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/geneticsinindia.com\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=110"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
Mucopolysaccharidosis!<\/strong><\/p>\n\n\n\n
Could it be MPS 1<\/strong>?<\/p>\n\n\n\n
But a pedigree of only affected sons!<\/p>\n\n\n\n
Could this be MPS 3<\/strong>?<\/p>\n\n\n\n
Oh! What a clinical fix!<\/p>\n\n\n\n
Only then can you offer prenatal counselling in a confident style!<\/p>\n\n\n\n
Is it really fair,
That,
Treatment options are available and yet, these children remain sick?<\/strong><\/p>\n\n\n\nPublication Note<\/h3>\n\n\n\n