{"id":21234,"date":"2025-11-17T01:45:43","date_gmt":"2025-11-16T22:45:43","guid":{"rendered":"https:\/\/hastane.ksu.edu.tr\/hastaliklar\/refsum\/"},"modified":"2025-11-17T01:45:43","modified_gmt":"2025-11-16T22:45:43","slug":"refsum","status":"publish","type":"hastaliklar","link":"https:\/\/hastane.ksu.edu.tr\/en\/hastaliklar\/refsum\/","title":{"rendered":"Refsum Disease"},"content":{"rendered":"<h2>Definition<\/h2>\n<p>Refsum disease is a rare metabolic disease characterized by retinitis pigmentosa, ataxia and peripheral neuropathy, resulting from phytanic acid accumulation.<\/p>\n<h2>Symptoms<\/h2>\n<ul>\n<li>Retinitis pigmentosa<\/li>\n<li>Ataxia<\/li>\n<li>Peripheral neuropathy<\/li>\n<li>Hearing loss<\/li>\n<\/ul>\n<h2>Reasons<\/h2>\n<p>PHYH or PEX7 gene mutations.<\/p>\n<h2>Diagnosis<\/h2>\n<p>Plasma phytanic acid level.<\/p>\n<h2>Treatment<\/h2>\n<p>Dietary restriction.<\/p>\n<h2>Which Polyclinic Should You Apply To?<\/h2>\n<p><strong>Metabolism Polyclinic<\/strong><\/p>\n<h2>What to Do in an Emergency?<\/h2>\n<p>In case of cardiac arrhythmia, emergency services should be consulted.<\/p>\n<p><em>This page is for general information purposes only.<\/em><\/p>","protected":false},"excerpt":{"rendered":"<p>Definition Refsum disease is a rare metabolic disorder characterized by retinitis pigmentosa, ataxia, and peripheral neuropathy resulting from phytanic acid accumulation. Symptoms Retinitis pigmentosa Ataxia Peripheral neuropathy Hearing loss Causes PHYH or PEX7 gene mutations. Diagnosis Plasma phytanic acid level. Treatment Dietary restriction. Which Clinic to Visit? Metabolism Clinic What to Do in an Emergency? In case of cardiac arrhythmia, emergency [\u2026]<\/p>","protected":false},"author":1,"featured_media":0,"menu_order":0,"template":"","format":"standard","meta":{"_acf_changed":false,"slim_seo":{"title":"Refsum Disease - Kahramanmara\u015f S\u00fct\u00e7\u00fc \u0130mam University Health Practice and Research Hospital","description":"Definition: Refsum disease is a rare metabolic disorder characterized by retinitis pigmentosa, ataxia, and peripheral neuropathy, resulting from the accumulation of phytanic acid."},"footnotes":""},"class_list":["post-21234","hastaliklar","type-hastaliklar","status-publish","format-standard","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/hastane.ksu.edu.tr\/en\/wp-json\/wp\/v2\/hastaliklar\/21234","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/hastane.ksu.edu.tr\/en\/wp-json\/wp\/v2\/hastaliklar"}],"about":[{"href":"https:\/\/hastane.ksu.edu.tr\/en\/wp-json\/wp\/v2\/types\/hastaliklar"}],"author":[{"embeddable":true,"href":"https:\/\/hastane.ksu.edu.tr\/en\/wp-json\/wp\/v2\/users\/1"}],"version-history":[{"count":0,"href":"https:\/\/hastane.ksu.edu.tr\/en\/wp-json\/wp\/v2\/hastaliklar\/21234\/revisions"}],"wp:attachment":[{"href":"https:\/\/hastane.ksu.edu.tr\/en\/wp-json\/wp\/v2\/media?parent=21234"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}