[{"command":"add_css","data":[{"rel":"stylesheet","media":"all","href":"\/core\/modules\/views\/css\/views.module.css?suu4vb"}]},{"command":"insert","method":"replaceWith","selector":"#case-definition-glossary-wrapper","data":"\u003Cdiv id=\u0022case-definition-glossary-wrapper\u0022\u003E\u003Cdiv class=\u0022accordion-multilevel case-definition-a-z js-view-dom-id-6aa8c437ab17225662b8e07c247f5c9d5f3b1fe8e4fec27a53e72fb6bfaa9e0a\u0022\u003E\n \n \n \n\n \n \n \n\n \u003Cdiv class=\u0022views-view-grid horizontal cols-400000 clearfix\u0022\u003E\n \u003Cdiv class=\u0022case-definitions\u0022\u003E\n \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3 js-title-level-3\u0022\u003E\nX-ALD (females)\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n \n \n \u003Cthead\u003E\n \u003Ctr\u003E\n \u003Cth class=\u0022category\u0022\u003ECategory\u003C\/th\u003E\n \u003Cth class=\u0022diagnosis\u0022\u003EDiagnosis\u003C\/th\u003E\n \u003Cth class=\u0022plasma-vlcfa\u0022\u003EPlasma VLCFA\u003C\/th\u003E\n \u003Cth class=\u0022plasmalogen\u0022\u003EPlasmalogen\u003C\/th\u003E\n \u003Cth class=\u0022mutation-analysis\u0022\u003EMutation analysis\u003C\/th\u003E\n \u003Cth class=\u0022fibroblast-studies\u0022\u003EFibroblast studies\u003C\/th\u003E\n \u003Cth class=\u0022additional-comments\u0022\u003EAdditional comments\u003C\/th\u003E\n \u003C\/tr\u003E\n \u003C\/thead\u003E\n \n \u003Ctbody\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022diagnosis\u0022\u003ECarrier Female\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EPathogenic variant ABCD1 gene\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022additional-comments\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022diagnosis\u0022\u003ECarrier Female\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EPathogenic variant ABCD1 gene\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022additional-comments\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022diagnosis\u0022\u003ECarrier Female\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENot done\/unknown\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003ENot done\/ unknown\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022additional-comments\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022diagnosis\u0022\u003ECarrier Female\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003ENot done\/ unknown\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENot done\/unknown\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003ENot done\/ unknown\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003ENot done\/ unknown\u003C\/td\u003E\n \u003Ctd class=\u0022additional-comments\u0022\u003EFamily history or family VLCFA studies suggestive of X-linked ALD\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022diagnosis\u0022\u003ECarrier Female\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EVariant of uncertain significance ABCD1 gene\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022additional-comments\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022diagnosis\u0022\u003ECarrier Female\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EVariant of uncertain significance ABCD1 gene\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022additional-comments\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003E^In the pathogenic range\u003C\/td\u003E\n \u003Ctd class=\u0022diagnosis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022additional-comments\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003C\/tbody\u003E\n \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3 js-title-level-3\u0022\u003E\nX-ALD (males)\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n \n \n \u003Cthead\u003E\n \u003Ctr\u003E\n \u003Cth class=\u0022category\u0022\u003ECategory\u003C\/th\u003E\n \u003Cth class=\u0022plasma-vlcfa\u0022\u003EPlasma VLCFA\u003C\/th\u003E\n \u003Cth class=\u0022clinical-symptoms\u0022\u003EClinical Symptoms\u003C\/th\u003E\n \u003Cth class=\u0022plasmalogen\u0022\u003EPlasmalogen\u003C\/th\u003E\n \u003Cth class=\u0022mutation-analysis\u0022\u003EMutation analysis\u003C\/th\u003E\n \u003Cth class=\u0022family-history\u0022\u003EFamily History\u003C\/th\u003E\n \u003C\/tr\u003E\n \u003C\/thead\u003E\n \n \u003Ctbody\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot present\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EPathogenic Variant in ABCD1 gene\u003C\/td\u003E\n \u003Ctd class=\u0022family-history\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot present\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EDeletion\/ duplication identified in ABCD1 gene\u003C\/td\u003E\n \u003Ctd class=\u0022family-history\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot present\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003ENo mutation on sequencing, deletion\/ duplication not done\u003C\/td\u003E\n \u003Ctd class=\u0022family-history\u0022\u003EFamily history or family VLCFA studies suggestive of X-linked ALD\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot present\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EVariant of uncertain significance in ABCD1 gene\u003C\/td\u003E\n \u003Ctd class=\u0022family-history\u0022\u003EFamily history or family VLCFA studies suggestive of X-linked ALD\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot present\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EVariant of uncertain significance in ABCD1 gene\u003C\/td\u003E\n \u003Ctd class=\u0022family-history\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot present\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003ENo mutation on sequencing, deletion\/ duplication not done; Rule out other disorders of peroxisomal beta oxidation\u003C\/td\u003E\n \u003Ctd class=\u0022family-history\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot present\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022family-history\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EProbable\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003ENot available\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot available\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENot available\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EPathogenic Variant in ABCD1 gene\u003C\/td\u003E\n \u003Ctd class=\u0022family-history\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003ENot available\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot present\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENot available\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EVariant of uncertain significance in ABCD1 gene\u003C\/td\u003E\n \u003Ctd class=\u0022family-history\u0022\u003EFamily history or family VLCFA studies suggestive of X-linked ALD#\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003E^In the pathogenic range\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022family-history\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003E# Family history may include multiple relatives consistent with X-linked transmission as determined by clinical specialist: Maternal grandfather, maternal aunts, mother\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022family-history\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003C\/tbody\u003E\n \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3 js-title-level-3\u0022\u003E\nABCD5 (in males and females)\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n \n \n \u003Cthead\u003E\n \u003Ctr\u003E\n \u003Cth class=\u0022category\u0022\u003ECategory\u003C\/th\u003E\n \u003Cth class=\u0022plasma-vlcfa\u0022\u003EPlasma VLCFA\u003C\/th\u003E\n \u003Cth class=\u0022plasmalogen\u0022\u003EPlasmalogen\u003C\/th\u003E\n \u003Cth class=\u0022mutation-analysis\u0022\u003EMutation analysis\u003C\/th\u003E\n \u003Cth class=\u0022fibroblast-studies\u0022\u003EFibroblast studies\u003C\/th\u003E\n \u003Cth class=\u0022clinical-symptoms\u0022\u003EClinical symptoms\u003C\/th\u003E\n \u003C\/tr\u003E\n \u003C\/thead\u003E\n \n \u003Ctbody\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003ETwo disease causing mutations\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot present at birth\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003EConsistent with ABCD5\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot present at birth\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003E^In the pathogenic range\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003C\/tbody\u003E\n \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3 js-title-level-3\u0022\u003E\nAcyl-CoA Oxidase Deficiency (in males and females)\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n \n \n \u003Cthead\u003E\n \u003Ctr\u003E\n \u003Cth class=\u0022category\u0022\u003ECategory\u003C\/th\u003E\n \u003Cth class=\u0022plasma-vlcfa\u0022\u003EPlasma VLCFA\u003C\/th\u003E\n \u003Cth class=\u0022plasmalogen\u0022\u003EPlasmalogen\u003C\/th\u003E\n \u003Cth class=\u0022mutation-analysis\u0022\u003EMutation analysis\u003C\/th\u003E\n \u003Cth class=\u0022fibroblast-studies\u0022\u003EFibroblast studies\u003C\/th\u003E\n \u003Cth class=\u0022clinical-symptoms\u0022\u003EClinical symptoms\u003C\/th\u003E\n \u003C\/tr\u003E\n \u003C\/thead\u003E\n \n \u003Ctbody\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003ETwo pathogenic mutations in the ACOX1 gene\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot present at birth\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003EConsistent with Acyl-CoA Oxidase Deficiency\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot present at birth\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003E^In the pathogenic range\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003C\/tbody\u003E\n \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3 js-title-level-3\u0022\u003E\nCADDS\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n \n \n \u003Cthead\u003E\n \u003Ctr\u003E\n \u003Cth class=\u0022category\u0022\u003ECategory\u003C\/th\u003E\n \u003Cth class=\u0022plasma-vlcfa\u0022\u003EPlasma VLCFA\u003C\/th\u003E\n \u003Cth class=\u0022clinical-symptoms\u0022\u003EClinical symptoms\u003C\/th\u003E\n \u003Cth class=\u0022plasmalogen\u0022\u003EPlasmalogen\u003C\/th\u003E\n \u003Cth class=\u0022mutation-analysis\u0022\u003EMutation analysis\u003C\/th\u003E\n \u003Cth class=\u0022family-history\u0022\u003EFamily history\u003C\/th\u003E\n \u003C\/tr\u003E\n \u003C\/thead\u003E\n \n \u003Ctbody\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003EPresent**\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EDeletion identified in ABCD1 and DXS1357E\u003C\/td\u003E\n \u003Ctd class=\u0022family-history\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003E^In the pathogenic range\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022family-history\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003E** Symptoms may include: neonatal hypotonia, neonatal seizures, liver disease, neonatal cholestasis, sensorineural deafness\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022family-history\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003C\/tbody\u003E\n \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3 js-title-level-3\u0022\u003E\nD-bifunctional protein deficiency (in males and females)\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n \n \n \u003Cthead\u003E\n \u003Ctr\u003E\n \u003Cth class=\u0022category\u0022\u003ECategory\u003C\/th\u003E\n \u003Cth class=\u0022plasma-vlcfa\u0022\u003EPlasma VLCFA\u003C\/th\u003E\n \u003Cth class=\u0022plasmalogen\u0022\u003EPlasmalogen\u003C\/th\u003E\n \u003Cth class=\u0022mutation-analysis\u0022\u003EMutation analysis\u003C\/th\u003E\n \u003Cth class=\u0022fibroblast-studies\u0022\u003EFibroblast studies\u003C\/th\u003E\n \u003Cth class=\u0022clinical-symptoms\u0022\u003EClinical symptoms\u003C\/th\u003E\n \u003C\/tr\u003E\n \u003C\/thead\u003E\n \n \u003Ctbody\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003ETwo pathogenic mutations in the HSD17B4 gene\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003EPresent*\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003EConsistent with D-Bifunctional Protein\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003EPresent*\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003E^In the pathogenic range\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003E*Clinical symptoms may include: Hypotonia in newborn period, failure to thrive, craniofacial abnormalities, abnormal liver function tests.\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003C\/tbody\u003E\n \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3 js-title-level-3\u0022\u003E\n Non-peroxisomal disorder (in males and females)\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n \n \n \u003Cthead\u003E\n \u003Ctr\u003E\n \u003Cth class=\u0022category\u0022\u003ECategory\u003C\/th\u003E\n \u003Cth class=\u0022plasma-vlcfa\u0022\u003EPlasma VLCFA\u003C\/th\u003E\n \u003Cth class=\u0022plasmalogen\u0022\u003EPlasmalogen\u003C\/th\u003E\n \u003Cth class=\u0022mutation-analysis\u0022\u003EMutation analysis\u003C\/th\u003E\n \u003Cth class=\u0022fibroblast-studies\u0022\u003EFibroblast studies\u003C\/th\u003E\n \u003Cth class=\u0022clinical-symptoms\u0022\u003EClinical symptoms\u003C\/th\u003E\n \u003C\/tr\u003E\n \u003C\/thead\u003E\n \n \u003Ctbody\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EMutation in one of the 7 known genes for Aicardi-Gouti\u00e8res Syndrome\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003EPresent**\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003E**Clinical symptoms may include: Hypotonia in newborn period, failure to thrive, on CT scan, intracranial calcifications.\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003C\/tbody\u003E\n \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3 js-title-level-3\u0022\u003E\nPeroxisomal disorder (in males and females)\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n \n \n \u003Cthead\u003E\n \u003Ctr\u003E\n \u003Cth class=\u0022category\u0022\u003ECategory\u003C\/th\u003E\n \u003Cth class=\u0022plasma-vlcfa\u0022\u003EPlasma VLCFA\u003C\/th\u003E\n \u003Cth class=\u0022clinical-symptoms\u0022\u003EClinical symptoms\u003C\/th\u003E\n \u003Cth class=\u0022plasmalogen\u0022\u003EPlasmalogen\u003C\/th\u003E\n \u003Cth class=\u0022mutation-analysis\u0022\u003EMutation analysis\u003C\/th\u003E\n \u003Cth class=\u0022family-history\u0022\u003EFamily history\u003C\/th\u003E\n \u003C\/tr\u003E\n \u003C\/thead\u003E\n \n \u003Ctbody\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EProbable\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot present\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003ENo mutation on sequencing, deletion\/duplication not found\u003C\/td\u003E\n \u003Ctd class=\u0022family-history\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003E^In the pathogenic range\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022family-history\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003C\/tbody\u003E\n \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n \u003Cdiv class=\u0022item-content\u0022\u003E\u003Cdiv\u003E\u003Cdiv\u003E\u003Cdiv class=\u0022wrap-field-data-table\u0022\u003E\n\u003Cdiv class=\u0022title-level-3 js-title-level-3\u0022\u003E\nZellweger spectrum disorder (in males and females)\u003C\/div\u003E\n\u003Cdiv class=\u0022field-data-table-content\u0022\u003E\n\u003Ctable data-striping=\u00221\u0022\u003E\n \n \n \u003Cthead\u003E\n \u003Ctr\u003E\n \u003Cth class=\u0022category\u0022\u003ECategory\u003C\/th\u003E\n \u003Cth class=\u0022plasma-vlcfa\u0022\u003EPlasma VLCFA\u003C\/th\u003E\n \u003Cth class=\u0022plasmalogen\u0022\u003EPlasmalogen\u003C\/th\u003E\n \u003Cth class=\u0022clinical-symptoms\u0022\u003EClinical symptoms\u003C\/th\u003E\n \u003Cth class=\u0022mutation-analysis\u0022\u003EMutation analysis\u003C\/th\u003E\n \u003Cth class=\u0022fibroblast-studies\u0022\u003EFibroblast studies\u003C\/th\u003E\n \u003C\/tr\u003E\n \u003C\/thead\u003E\n \n \u003Ctbody\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ELow\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003EPresent*\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003ETwo pathogenic variants in the same PEX gene\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ELow\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003EPresent*\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003EConsistent with ZSD\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ELow\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot present\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003ETwo pathogenic variants in the same PEX gene\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ELow\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot present\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003EConsistent with ZSD\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EDefinite\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ELow\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003EPresent*\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ELow\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot present\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003EPossible\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003EElevated^\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003ENormal\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003ENot present\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003EUntested or unknown\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003E^In the pathogenic range\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003Ctr\u003E\n \u003Ctd class=\u0022category\u0022\u003E*Clinical symptoms may include: Hypotonia in newborn period, failure to thrive, craniofacial abnormalities, abnormal liver function tests.\u003C\/td\u003E\n \u003Ctd class=\u0022plasma-vlcfa\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022plasmalogen\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022clinical-symptoms\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022mutation-analysis\u0022\u003E\u003C\/td\u003E\n \u003Ctd class=\u0022fibroblast-studies\u0022\u003E\u003C\/td\u003E\n \u003C\/tr\u003E\n \u003C\/tbody\u003E\n \u003C\/table\u003E\n \u003C\/div\u003E\n\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\u003C\/div\u003E\n \u003C\/div\u003E\n \u003C\/div\u003E\n\n \n \n \n \n\u003C\/div\u003E\n\u003C\/div\u003E","settings":null}]