{"id":1053139,"date":"2011-08-21T15:54:00","date_gmt":"2011-08-21T15:54:00","guid":{"rendered":"http:\/\/www.immortalitymedicine.tv\/neurology\/porphyrias.php"},"modified":"2024-08-17T18:48:25","modified_gmt":"2024-08-17T22:48:25","slug":"porphyrias","status":"publish","type":"post","link":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/neurology\/porphyrias.php","title":{"rendered":"Porphyrias"},"content":{"rendered":"<p>From a <a href=\"http:\/\/www.thelancet.com\/journals\/lancet\/article\/PIIS0140673609619255\/abstract?rss=yes\">Lancet review<\/a>:<\/p><div><\/div><div>Hereditary porphyrias represent a group of <b>8 metabolic disorders <\/b>of the haem biosynthesis. They are characterised by acute neurovisceral symptoms, skin lesions, or both. <p>Every porphyria is caused by abnormal function of a <b>separate enzymatic step<\/b>, resulting in a specific accumulation of haem precursors:<\/p><\/div><div><\/div><div>- 7 porphyrias are the result of a partial enzyme deficiency<\/div><div>- a gain of function mechanism is present in one new porphyria <p><b>Acute<\/b> porphyrias present with acute attacks - severe abdominal pain, nausea, constipation, confusion, and seizure - and can be life-threatening. <\/p><p><b>Cutaneous<\/b> porphyrias present with painful photosensitivity, skin fragility and blisters. <\/p><p>Porphyrias are still underdiagnosed. Screening of families to identify presymptomatic carriers and avoidance of precipitants is important. <\/p><p>References:<\/p><\/div><div><a href=\"http:\/\/www.thelancet.com\/journals\/lancet\/article\/PIIS0140673609619255\/abstract?rss=yes\">Porphyrias<\/a>. The Lancet,  Volume 375, Issue 9718, Pages 924 - 937, 13 March 2010. <\/div><div><p>Posted at <a href=\"http:\/\/casesblog.blogspot.com\/\">Clinical Cases and Images<\/a>. Stay updated and <a href=\"http:\/\/feeds.feedburner.com\/CasesBlog\">subscribe<\/a>, follow us on <a href=\"http:\/\/twitter.com\/DrVes\">Twitter<\/a> and connect on <a href=\"http:\/\/www.facebook.com\/DrVes\">Facebook<\/a>.<img loading=\"lazy\" decoding=\"async\" width=\"1\" height=\"1\" src=\"https:\/\/www.immortalitymedicine.tv\/wp-content\/plugins\/wp-o-matic\/cache\/c6a76_11326364-3498470602596996149?l=casesblog.blogspot.com\" alt=\"\" style=\"padding-left:10px; padding-right: 10px;\"><\/p><\/div><p><a href=\"http:\/\/feedads.g.doubleclick.net\/~a\/oc84OlYcA-L8u0fWb0NlCX3-Xb8\/0\/da\"><img decoding=\"async\" src=\"https:\/\/www.immortalitymedicine.tv\/wp-content\/plugins\/wp-o-matic\/cache\/c6a76_di\" border=\"0\" style=\"padding-left:10px; padding-right: 10px;\"><\/a><br><a href=\"http:\/\/feedads.g.doubleclick.net\/~a\/oc84OlYcA-L8u0fWb0NlCX3-Xb8\/1\/da\"><img decoding=\"async\" src=\"https:\/\/www.immortalitymedicine.tv\/wp-content\/plugins\/wp-o-matic\/cache\/c6a76_di\" border=\"0\" style=\"padding-left:10px; padding-right: 10px;\"><\/a><\/p><p><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/www.immortalitymedicine.tv\/wp-content\/plugins\/wp-o-matic\/cache\/bd4ed_aJYe34_mwn8\" height=\"1\" width=\"1\" style=\"padding-left:10px; padding-right: 10px;\">Source:<br><a href=\"http:\/\/feeds.feedburner.com\/CasesBlog\">http:\/\/feeds.feedburner.com\/CasesBlog<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>From a Lancet review:Hereditary porphyrias represent a group of 8 metabolic disorders of the haem biosynthesis. They are characterised by acute neurovisceral symptoms, skin lesions, or both. Every porphyria is caused by abnormal function of a separate enzymatic step, resulting &hellip; <a href=\"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/neurology\/porphyrias.php\">Continue reading <span class=\"meta-nav\">&rarr;<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"limit_modified_date":"","last_modified_date":"","_lmt_disableupdate":"","_lmt_disable":"","footnotes":""},"categories":[1246864],"tags":[],"class_list":["post-1053139","post","type-post","status-publish","format-standard","hentry","category-neurology"],"modified_by":null,"_links":{"self":[{"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/posts\/1053139"}],"collection":[{"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/comments?post=1053139"}],"version-history":[{"count":0,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/posts\/1053139\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/media?parent=1053139"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/categories?post=1053139"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/tags?post=1053139"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}