Inborn errors of amino acid, organic acid metabolism and disorders of the urea cycle
نویسندگان
چکیده
??vod: DÄ?diÄnÄ? podm?nÄ?n?Š poruchy metabolismu (DPM) aminokyselin (AMK), organick??ch kyselin (OA) a cyklu moÄoviny (UCD) p??edstavuj? heterogenn? skupinu 135 r??zn??ch onemocnÄ?n? zp??soben??ch poru??enou synt?Šzou, transportem Äi odbour??v??n?m AMK, OA amoniaku. Jednotliv?? jsou vz??cn??, ale celkov?? v??skyt v populaci je 1 : 3000-4000. Metodika: Pr??ce shrnuje klinick?Š, diagnostick?Š terapeutick?Š aspekty nejÄastÄ?j???ch DPM-AMK, UCD. Osm nemoc? souÄ??st? laboratorn?ho novorozeneck?Šho screeningu, diagnostika ostatn?ch DPM z??vis? na klinick?Šm podez??en?, stanoven? amoniaku krvi rychl?Š indikaci selektivn?ho metabolick?Šho screeningu. V??sledky: UCD se klinicky projevuj? akutn?m nebo subakutn?m rozvratem s metabolickou alkal??zou acid??zou n??sledn??m posti?žen?m funkc? jater, ledvin a/nebo mozku pomalu progreduj?c?m CNS zpomalen?m v??voje poruchou kognitivn?ch funkc?. Do prvn? skupiny pat??? OA, tyrosinemie typu 1, leucin??za UCD, kter?Š hromadÄ?n?m toxick??ch metabolit?? vznikaj?c?ch p??i degradaci aminokyselin. druh?Š fenylketonurie homocystinurie, u p??idru?žuje i posti?žen? oÄ?, kost? tromboembolick?Š p???hody. Z??vÄ?r: Adekv??tn? terapie vÄasn?Š diagnostice. U pacient?? mozku, nap???klad tÄ??žk?Š hyperamonemii, pou?ž?vaj? eliminaÄn? metody. pomaleji onemocnÄ?n?m uplat??uje celo?životn? n?zkob?lkovinn?? dieta suplementovan?? potravinami pro zvl????tn? l?Ška??sk?Š ??Äely, vitaminoterapie chaperonov?? podporuj?c? aktivity posti?žen??ch enzym?? snaha blokovat aktivovat alternativn? metabolick?Š dr??hy. Zvy??uje poÄet onemocnÄ?n?, kter??ch pou?ž?v?? enzymov?? substituÄn? transplantace jater ledvin. NovÄ? prob?haj? trialy genovou terapi?.
منابع مشابه
Screening for inborn errors of amino acid metabolism.
Early diagnosis and treatment may prevent brain damage and mental retardation in young infants with inborn errors of amino acid metabolism. The abnormal blood and urinary amino acids and their metabolites are listed in two separate tables in association with each disorder to aid laboratories in making a diagnosis during screening. Because of recent developments and discoveries, more detailed de...
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ژورنال
عنوان ژورنال: Ceskoslovenska? pediatrie
سال: 2022
ISSN: ['0069-2328']
DOI: https://doi.org/10.55095/cspediatrie2022/066