Author/Editor		Lukacs, Z
Title		Tandem madd spectrometry (MS/MS) in neonatal screening - potential, problems and prospects
Translated title		Tandemska masna spektrometrija (MS/MS) v presejalnem testiranju novorojencev - možnosti, problemi in pričakovanja
Type		članek
Source		Slov Pediatr
Vol. and No.		Letnik 10, št. 3
Publication year		2003
Volume		str. 150-6
Language		eng
Abstract		Tandem mass spectrometry (MS/MS) has become a technique with great potential. Multiple analytes can now easily be determined simultaneously from one sample. In Germany, a three-year study of MS/MS newborn screening conducted in Bavaria concluded that the benefits of finding a variety of additional disorders warrants the additional cost of MS/MS screening. However, many open questions remain, such as, which diseases to screen for and how to organise the screening from sample to result and patient follow-up. Therefore, we included experts from four different metabolic centres in Northern Germany to decide on the initial design of our program and to continuously survey and develop it. Considering results from the Bavarian model project, from the New England Newborn Screening Program and further expert experience, we decided to include PKU, MSUD, tyrosinemia II, deficiencies of SCAD, MCAD, VLCAD, LCHAD, CPT I and II, CAT, MAD, HMG-CoA lyase, MCC and beta-ketothiolase, as well as propionic acidemia, methylmalonic acidemia, isovaleric acidemia and glutaric aciduria I. Citrullinemia is currently being evaluated. An expert group meets regularly to discuss clinical and technical problems. Finally, to ensure the best possible care for children found through neonatal screening we are organising a network of metabolic centres to keep track of these infants and to advise on treatment. Because of the open questions in MS/MS screening, scientific follow-up appears mandatory.
Summary		Tandemska masna spektrometrija (MS/MS) je metoda številnih možnosti. V enem vzorcu lahko istočasno analiziramo veliko število metabolitov. Na Bavarskem v Nemčiji je potekala 3-letna študija, ki je pokazala, da številne dodatno ugotovljene presnovne motnje upravičijo stroške MS/MS kot neonatalne presejalne metode. Seveda ostajajo nekatera vprašanja še odprta: npr. katere bolezni naj ciljano iščemo s presejalnim testom, kakšen naj bo idealen postopek od vzorčenja do rezultata in nato tudi način vodenja bolnika...V želji po dobro organiziranem programu, po stalnem preverjanju kvalitete dela in razvoju metode so se združili strokovnjaki iz štirih centrov za presnovne bolezni v severni Nemčiji. Na temelju rezultatov bavarskega projekta, izkušenj presejalnega programa novorojencev v Angliji ter glede na dosedanje strokovne izkušnje smo v program presejanja novorojencev vključili sledeče presnovne motnje: fenilketonurija, tirozinemija tip II, bolezen javorjevega sirupa, pomanjkanje kratko-, srednje-, dolgo- in zelo dolgo-verižnih acil koencim A dehidrogenaz, pomanjkanje karnitin palmitoiltransferaze I in II, pomanjkanje karnitin-acilkarnitin translokaze, pomanjkanje aktivnosti hidroksi-metilglutaril koencim A liaze, motnjo multiplih acetil koencim A dehidrogenaz, pomanjkanje metilkrotonil koencim A karboksilaze in beta ketotiolaze ter seveda tudi propionsko acidemijo, metilmalonsko acidemijo, izovalerično acidemijo in glutarično acidurijo tip I. Trenutno analiziramo tudi citrulinemijo. Skupina strokovnjakov se redno sestaja in razpravlja o kliničnih in tehničnih problemih. V želji po optimalni skrbi za otroke s presnovnimi motnjami smo organizirali mrežo metabolnih centrov, ki sledijo s presejalnim testom odkrite otroke s presnovnimi motnjami in svetujejo zdravljenje. Seveda pa nekateri dvomi in vprašanja še ostajajo in nas obvezujejo, da MS/MS kot presejalno metodo ves čas strokovno nadzorujemo in spremljamo na temelju strokovnih izkušenj.
Descriptors		METABOLISM, INBORN ERRORS CARNITINE MASS SCREENING INFANT, NEWBORN SPECTRUM ANALYSIS, MASS