IBL/苯丙氨酸（PKU）新生儿筛查试验（480检测）/RE80015/
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产品分类：
其它检测试剂盒
公司分类：
Other_kits
联系Q Q：
3392242852
电话号码：
4000-520-616
电子邮箱：
info@ebiomall.com
商品介绍
| Kitsize | 480determinations |
| Method | Enzymaticassay |
| Incubationtime | 2x30min,1x3min |
| Standardrange | 1-18mg/dL |
| Specimen/Volumes | bloodspot |
| Substrate/isotope | INT570nm |
| RegulatoryStatus: | EU:CE |
Detailsfor:Phenylalanin(PKU)NeonatalScreeningAssay(480det.)
EnzymaticAssayforthein-vitro-diagnosticquantitativedeterminationofL-Phenylalanineinhumannewbornbloodspots.ForneonatalscreeningonPhenylketonuria.
Phenylketonuria(PKU)isoneofthemostoftenheriditarydiseasesofthemetabolismoftheaminoacids.It
istransmittedautosomalrecessivetothedescendantwithanincidenceofcirca1:2600to1:25000
dependentontheobservedpopulationgroup.Themaincauseofthedisease–90to99%ofallcases–isadecreaseortheabsenceoftheactivityoftheenzymecomplexPhenylalaninehydroxylasewhichisresponsIBLeforthetransformationoftheessentialaminoacidPhenylalanineintoTyrosine.ThelatterisaprecursoroftheCatecholamines,Melanineandthethyroidhormones.BecauseoftheblockingofthismetabolismPhenylalanineistransformedbyanalternativepathwaytoPhenylpyruvateand–acetatewhichareexcretedbythekidneys.Thediseasebecomesapparentbyamentalretardationofthepatientsbeginninginthefirstweeksoftheirlife.Responsibleforthisdevelopmentistheimpropermyelinizationoftheneuronsinthebrainbecauseofthechangeintheproteinmetabolism.OthersignsofthePhenylketonuriaarethelackingofpigmentationofthedermisanditsadnexisbecauseofthedisturbanceofthesynthesisofMelanineandthereforeitspredispositionofskindiseases.ItisimportanttomakethediagnosisofPhenylketonuriainthenewbornsbecausethecerebraldamagecanbepreventedbyalowPhenylalaninediet.ThereforeascreeningtestforthedetectionofelevatedPhenylalanineconcentrationsinthebloodhastobemadebetweenthe2rdandthe5thdayoftheinfantslife.Ifthisoneispositiveitisfollowedbyaconfirmatoryassaytodetectthespecialmutationsonthechromosome12.ManyscreeningtestsweredevelopedformonitoringpatientsforPhenylketonuria.ThefirstonecalledtoitsinventorGUTHRIEisbasedontheneutralizationofangrowthinhibitingfactorofBacillussubtilisbyhighPhenylalaninelevels.BecauseofsomedisadvantagesofthismethoditisreplacedbyassaysinwhichthePhenylalanineinthebloodofthepatientstakespartinachemicalreactiondevelopingafluorescinatingoracolouredsubstancewhichcanbemeasuredquantitavely.TheprocedurescanbeusedmoreconvenientlyincomparisontothemoresophisticatedandmoreexpensivemethodoftheHPLC.
ForconcretedatapleaseconsulttheInstructionforUseinthedownloadboxontherightside.Phenylketonuria(PKU)isoneofthemostoftenheriditarydiseasesofthemetabolismoftheaminoacids.It
istransmittedautosomalrecessivetothedescendantwithanincidenceofcirca1:2600to1:25000
dependentontheobservedpopulationgroup.Themaincauseofthedisease–90to99%ofallcases–isadecreaseortheabsenceoftheactivityoftheenzymecomplexPhenylalaninehydroxylasewhichisresponsIBLeforthetransformationoftheessentialaminoacidPhenylalanineintoTyrosine.ThelatterisaprecursoroftheCatecholamines,Melanineandthethyroidhormones.BecauseoftheblockingofthismetabolismPhenylalanineistransformedbyanalternativepathwaytoPhenylpyruvateand–acetatewhichareexcretedbythekidneys.Thediseasebecomesapparentbyamentalretardationofthepatientsbeginninginthefirstweeksoftheirlife.Responsibleforthisdevelopmentistheimpropermyelinizationoftheneuronsinthebrainbecauseofthechangeintheproteinmetabolism.OthersignsofthePhenylketonuriaarethelackingofpigmentationofthedermisanditsadnexisbecauseofthedisturbanceofthesynthesisofMelanineandthereforeitspredispositionofskindiseases.ItisimportanttomakethediagnosisofPhenylketonuriainthenewbornsbecausethecerebraldamagecanbepreventedbyalowPhenylalaninediet.ThereforeascreeningtestforthedetectionofelevatedPhenylalanineconcentrationsinthebloodhastobemadebetweenthe2rdandthe5thdayoftheinfantslife.Ifthisoneispositiveitisfollowedbyaconfirmatoryassaytodetectthespecialmutationsonthechromosome12.ManyscreeningtestsweredevelopedformonitoringpatientsforPhenylketonuria.ThefirstonecalledtoitsinventorGUTHRIEisbasedontheneutralizationofangrowthinhibitingfactorofBacillussubtilisbyhighPhenylalaninelevels.BecauseofsomedisadvantagesofthismethoditisreplacedbyassaysinwhichthePhenylalanineinthebloodofthepatientstakespartinachemicalreactiondevelopingafluorescinatingoracolouredsubstancewhichcanbemeasuredquantitavely.TheprocedurescanbeusedmoreconvenientlyincomparisontothemoresophisticatedandmoreexpensivemethodoftheHPLC.
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