{"id":1012,"date":"2017-08-09T19:46:52","date_gmt":"2017-08-09T19:46:52","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=1012"},"modified":"2017-08-09T19:46:52","modified_gmt":"2017-08-09T19:46:52","slug":"heterogeneous-clinical-spectrum-of-dnajc12-deficient-hyperphenylalaninemia-from-attention-deficit-to-severe-dystonia-and-intellectual-disability","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2017\/08\/09\/heterogeneous-clinical-spectrum-of-dnajc12-deficient-hyperphenylalaninemia-from-attention-deficit-to-severe-dystonia-and-intellectual-disability\/","title":{"rendered":"Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability"},"content":{"rendered":"<p>Hyperphenylalaninemia is one of the most common inherited metabolic diseases diagnosed in the newborn screening and until now follow-up investigation included differential diagnosis of phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficiency. With the description of patients with biallelic variants in co-chaperone DNAJC12 (van Spronsen et al 2017), the paradigm of hyperphenylalaninemia needs reconsideration. DNAJC12-deficient patients may present initially without any symptoms, with only mild attention deficit or with a severe intellectual disability, and need immediate and appropriate treatment (BH4, l-dopa\/Carbidopa and 5-hydroxytryptophan). Thus, every newborn with hyperphenylalaninemia, in which PKU and BH4 deficiency were excluded need to be tested for DNAJC12 variants. (By Prof. Dr. Beat Th\u00f6ny, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/08\/09\/jmedgenet-2017-104875\">http:\/\/jmg.bmj.com\/content\/early\/2017\/08\/09\/jmedgenet-2017-104875<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Hyperphenylalaninemia is one of the most common inherited metabolic diseases diagnosed in the newborn screening and until now follow-up investigation included differential diagnosis of phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficiency. With the description of patients with biallelic variants in co-chaperone DNAJC12 (van Spronsen et al 2017), the paradigm of hyperphenylalaninemia needs reconsideration. DNAJC12-deficient patients may [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2017\/08\/09\/heterogeneous-clinical-spectrum-of-dnajc12-deficient-hyperphenylalaninemia-from-attention-deficit-to-severe-dystonia-and-intellectual-disability\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1012","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1012","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=1012"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1012\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1012"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1012"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1012"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}