{"id":11824,"date":"2020-05-06T00:15:49","date_gmt":"2020-05-05T21:15:49","guid":{"rendered":"https:\/\/www.synevo.ro\/shop\/screening-metabolic-neonatal-extins\/"},"modified":"2025-07-01T07:56:39","modified_gmt":"2025-07-01T04:56:39","slug":"screening-metabolic-neonatal-extins","status":"publish","type":"product","link":"https:\/\/old.synevo.md\/ru\/shop\/screening-metabolic-neonatal-extins\/","title":{"rendered":"\u0420\u0430\u0441\u0448\u0438\u0440\u0435\u043d\u043d\u044b\u0439 \u043d\u0435\u043e\u043d\u0430\u0442\u0430\u043b\u044c\u043d\u044b\u0439 \u043c\u0435\u0442\u0430\u0431\u043e\u043b\u0438\u0447\u0435\u0441\u043a\u0438\u0439 \u0441\u043a\u0440\u0438\u043d\u0438\u043d\u0433"},"content":{"rendered":"

Informa\u021bii generale \u0219i recomand\u0103ri<\/em><\/strong><\/p>\n

Screening-ul neonatal, o component\u0103 important\u0103 a medicinei preventive, include un panel de teste pentru identificarea precoce a unor condi\u021bii patologice la care interven\u021bia \u00een timp util are drept consecin\u021b\u0103 eliminarea sau reducerea morbidit\u0103\u021bii, mortalit\u0103\u021bii \u0219i a dizabilit\u0103\u021bilor.<\/p>\n

De la prima ini\u021biativ\u0103 de screening neonatal din anii 1960 pentru depistarea fenilcetonuriei num\u0103rul afec\u021biunilor pentru care s-au dezvoltat teste de screening \u00een perioada neonatal\u0103 a crescut dramatic, \u00een special \u00een urma introducerii analizei multiplex prin spectrometrie de mas\u0103 \u00een tandem a profilelor de aminoacizi \u0219i acilcarnitin\u01031<\/sup>.<\/p>\n

Tulbur\u0103rile ereditare de metabolism au suscitat aten\u021bia neonatologilor \u0219i pediatrilor prin faptul c\u0103 multe din aceste afec\u021biuni pot fi tratate eficient dac\u0103 sunt detectate precoce si de aici importan\u021ba includerii acestora \u00a0\u00een testele de screening din perioada neonatal\u0103. Pe alt\u0103 parte, chiar dac\u0103 unele boli nu beneficiaz\u0103 de tratament screening-ul lor este de asemenea justificat, pentru a facilita diagnosticul prenatal la sarcinile viitoare2<\/sup>.<\/p>\n

Tulbur\u0103rile ereditare de metabolism reprezint\u0103 un grup de afec\u021biuni monogenice ce afecteaz\u0103 func\u021bia unor proteine cu rol esen\u021bial \u00een diverse c\u0103i metabolice (enzime, cofactori, receptori, transportori, etc) . Anomaliile biochimice rezultate conduc la fie la acumularea unor metaboli\u021bi intermediari sau de by-pass, fie la o deficien\u021b\u0103 de metaboli\u021bi terminali gener\u00e2nd tulbur\u0103ri metabolice severe, cum ar fi acidoza lactic\u0103, cetoacidoza sau hiperamoniemia3<\/sup>. Anomaliile biochimice pot afecta aminoacizii, acizii organici, carbohidra\u021bii, acizii gra\u0219i, purinele \u0219i pirimidinele. P\u00e2n\u0103 \u00een prezent au fost identificate peste 500 de afec\u021biuni metabolice ereditare, fiind estimat\u0103 o inciden\u021b\u0103 cumulat\u0103 global\u0103 ce variaz\u0103 de la 1\/800 la 1\/2500 nou-n\u0103scu\u021bi4<\/sup>.<\/p>\n

Majoritatea metaboli\u021bilor anormali asocia\u021bi cu tulbur\u0103rile ereditare de metabolism sunt excreta\u021bi \u00een urin\u0103. Av\u00e2nd \u00een vedere faptul c\u0103 probele de urin\u0103 sunt u\u0219or de colectat pe h\u00e2rtie de filtru sunt preferate pentru testele de screening neonatal5<\/sup>.<\/p>\n

Metabolomica reprezint\u0103 o nou\u0103 abordare pentru analiza modific\u0103rilor suferite de to\u021bi compu\u0219ii cu greutate molecular\u0103 intermediar\u0103 \u0219i metaboli\u021bii terminali. Gaz-cromatografia cuplat\u0103 cu spectrometria de mas\u0103 (GC\/MS) constituie un instrument analitic avantajos pentru studiile de metabolomic\u0103 fiind capabil\u0103 s\u0103 separe \u0219i s\u0103 cuantifice simultan c\u00e2teva sute de metaboli\u021bi, \u00eentr-un timp scurt. Ca principiu general, extractele de probe biologice sunt supuse volatiliz\u0103rii \u00eenainte de separarea printr-o coloan\u0103 capilar\u0103, cu o faz\u0103 sta\u021bionar\u0103 adecvat\u0103 pentru analiza compu\u0219ilor de interes. Compu\u0219ii separa\u021bi sunt elua\u021bi \u00eentr-un spectrometru de mas\u0103 echipat cu o surs\u0103 de ionizare prin impact electronic, fiind generate spectre de mas\u0103 cuantificabile6<\/sup>.<\/p>\n

\u00cen 1966, Tanaka et al de la Massachussets General Hospital au detectat pentru prima oar\u0103 acidemia izovaleric\u0103 prin GC\/MS eviden\u021biind importan\u021ba acestei tehnici. \u00cen 1977 a fost ini\u021biat \u00een Japonia un program de depistare a 22 afec\u021biuni metabolice. Mai t\u00e2rziu, \u00een 1991, Shoemaker \u0219i Eliott de la Universitatea St. Louis, USA au raportat c\u0103 acizii organici, aminoacizii \u0219i carbohidra\u021bii pot fi separa\u021bi eficient \u00een urin\u0103 prin GC\/MS. Procedura analitic\u0103 aplicat\u0103 de ace\u0219tia era \u00eens\u0103 laborioas\u0103 astfel c\u0103, \u00een 1996 a fost simplificat\u0103 de Kuhara et al. \u00cen 2007 tehnica GC\/MS a fost utilizat\u0103 pentru detectarea fenilalaninei, tirozinei, leucinei \u0219i valinei din spoturi de s\u00e2nge la nou-n\u0103scu\u021bi. Screening-ul neonatal utilizand probe de s\u00e2nge recoltate pe carduri Guthrie a fost introdus cu succes \u00een SUA \u0219i \u021b\u0103rile dezvoltate din Europa. Ulterior, al\u0103turi de s\u00e2nge au \u00eenceput s\u0103 fie folosite \u0219i probe de urin\u0103. Deoarece compu\u0219ii toxici pentru organism sau cei care dep\u0103\u0219esc nivelul optim \u00een s\u00e2nge sunt excreta\u021bi prin urin\u0103 \u00een cantit\u0103\u021bi mari pot fi detecta\u021bi cu u\u0219urin\u021b\u0103 prin GC\/MS. \u00cen plus, colectarea probelor de urin\u0103 este neinvaziv\u0103 comparativ cu recoltarea probelor de s\u00e2nge. Progresul \u00eenregistrat recent \u00een metodologia de separare \u00een asociere cu spectrometria de mas\u0103 a crescut eficien\u021ba GC\/MS \u0219i a \u00eembun\u0103t\u0103\u021bit remarcabil detectarea tulbur\u0103rilor ereditare de metabolism prin screening neonatal7<\/sup>.<\/p>\n

Testul Baby Sensor 100+<\/strong> (Novogenia, Austria) disponibil \u00een laboratoarele Synevo ofer\u0103 un screening neonatal pentru 100 afec\u021biuni metabolice ereditare (aminoacidopatii, acidemii organice, disfunc\u021bii ale ciclului Krebs\/anomalii mitocondriale, boli peroxizomale, tulbur\u0103ri \u00een metabolismul carbohidra\u021bilor, acizilor gra\u0219i, purinelor \u0219i pirimidinelor) \u0219i, \u00een plus, fa\u021b\u0103 de neuroblastom. Este raportat\u0103 o rat\u0103 de detec\u021bie de 99%. Sunt necesare probe de urin\u0103 spontan\u0103 recoltate pe h\u00e2rtie de filtru.<\/p>\n

\u00cen tabelul de mai jos sunt prezentate afec\u021biunile ce pot fi detectate cu acest test, complica\u021biile acestora \u0219i tipul de interven\u021bie disponibil8<\/sup>:<\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
Denumire afec\u021biune<\/strong><\/td>\nComplica\u021bii<\/strong><\/td>\nTip de interven\u021bie<\/strong><\/td>\n<\/tr>\n
Galactozemia tranzitorie<\/td>\nRetard de cre\u0219tere \u0219i disfunc\u021bie hepatic\u0103<\/td>\nTip A<\/td>\n<\/tr>\n
Aciduria 2-cetoadipic\u0103<\/td>\nRetard de dezvoltare \u0219i alte probleme neurologice<\/td>\nTip A<\/td>\n<\/tr>\n
Aciduria 3-hidroxi, 3-metil glutaric\u0103 (deficitul de 3-hidroxi 3-metilglutaril CoA liaz\u0103)<\/td>\nAcidoz\u0103 metabolic\u0103 sever\u0103 f\u0103r\u0103 cetoz\u0103 \u0219i retard de dezvoltare<\/td>\nTip A<\/td>\n<\/tr>\n
Deficien\u021ba de 3-hidroxi-izobutiril CoA decarboxilaz\u0103<\/td>\nHipoglicemie hipoketotic\u0103 sever\u0103 \u0219i afectare neurologic\u0103<\/td>\nTip B<\/td>\n<\/tr>\n
Deficien\u021ba de 3-metilcrotonil CoA carboxilaz\u0103<\/td>\nAcidoz\u0103 metabolic\u0103 acut\u0103, retard de dezvoltare<\/td>\nTip A<\/td>\n<\/tr>\n
Aciduria 3-metil glutaconic\u0103<\/td>\nCardiomiopatie \u0219i miopatie ce afecteaz\u0103 musculatura scheletic\u0103<\/td>\nTip B<\/td>\n<\/tr>\n
5-oxoprolinuria<\/td>\nConvulsii, retard mental, lipsa coordon\u0103rii<\/td>\nTip A<\/td>\n<\/tr>\n
Hiperglicinuria (cetotic\u0103)<\/td>\nRetard de cre\u0219tere<\/td>\nTip A<\/td>\n<\/tr>\n
Deficien\u021ba de adenin-fosforibozil transferaz\u0103<\/td>\nInfec\u021bii de tract urinar<\/td>\nTip B<\/td>\n<\/tr>\n
Deficien\u021ba de adenozin deaminaz\u0103<\/td>\nOtit\u0103 \u0219i infec\u021bii de tract respirator recurente<\/td>\nTip B<\/td>\n<\/tr>\n
Alcaptonuria<\/td>\nAfectarea cartilajelor<\/td>\nTip A<\/td>\n<\/tr>\n
Argininemia<\/td>\nRetard de dezvoltare<\/td>\nTip A<\/td>\n<\/tr>\n
Aciduria arginino-succinic\u0103<\/td>\nRetard mental \u0219i motor<\/td>\nTip A<\/td>\n<\/tr>\n
Deficien\u021ba de biotinidaz\u0103<\/td>\nRash facial\/perioral, retard mental<\/td>\nTip A<\/td>\n<\/tr>\n
Boala Canavan<\/td>\nRetard sever de dezvoltare<\/td>\nTip B<\/td>\n<\/tr>\n
Acidemia hiperuric\u0103<\/td>\nSurditate neurosenzorial\u0103, urolitiaz\u0103<\/td>\nTip A<\/td>\n<\/tr>\n
Citrulinemia<\/td>\nLetargie \u0219i comportament anormal<\/td>\nTip A<\/td>\n<\/tr>\n
Cistationuria<\/td>\nDisfunc\u021bie hepatic\u0103<\/td>\nTip A<\/td>\n<\/tr>\n
Cistinurie<\/td>\nRetard de dezvoltare<\/td>\nTip A<\/td>\n<\/tr>\n
Hiperfenilalaninemia benign\u0103<\/td>\nEczem\u0103, p\u0103r \u0219i piele de culoare deschis\u0103<\/td>\nTip A<\/td>\n<\/tr>\n
Aciduria metilmalonic\u0103, formele cblA, cblB<\/td>\nHipotonie, retard de dezvoltare, letargie, hepatomegalie<\/td>\nTip A<\/td>\n<\/tr>\n
Aciduria D-gliceric\u0103<\/td>\nRetard de cre\u0219tere<\/td>\nTip C<\/td>\n<\/tr>\n
Sucrozuria endogen\u0103<\/td>\nRetard mental<\/td>\nTip B<\/td>\n<\/tr>\n
Deficien\u021ba de dihidropiridinaz\u0103<\/td>\nConvulsii neonatale<\/td>\nTip D<\/td>\n<\/tr>\n
Deficien\u021ba de dihidrolipoil dehidrogenaz\u0103 (E3)<\/td>\nMiros dulceag al urinei \u0219i corpului (de zah\u0103r ars)<\/td>\nTip D<\/td>\n<\/tr>\n
Aciduria etilmalonic\u0103<\/td>\nRetard de cre\u0219tere \/com\u0103<\/td>\nTip D<\/td>\n<\/tr>\n
Aciduria formiminoglutamic\u0103<\/td>\nAnemia megaloblastic\u0103<\/td>\nTip A<\/td>\n<\/tr>\n
Deficien\u021ba de fructozo-1,6-difosfataz\u0103<\/td>\nHipoglicemie cu cetoz\u0103<\/td>\nTip A<\/td>\n<\/tr>\n
Deficien\u021ba de fumarat hidrataz\u0103<\/td>\nConvulsii cu retard sever<\/td>\nTip D<\/td>\n<\/tr>\n
Galactozemia<\/td>\nDisfunc\u021bie hepatic\u0103<\/td>\nTip A<\/td>\n<\/tr>\n
Aciduria glutaric\u0103 tip I<\/td>\nMacrocefalie cu dificult\u0103\u021bi de mi\u0219care<\/td>\nTip A<\/td>\n<\/tr>\n
Aciduria glutaric\u0103 tip II<\/td>\nMiros de picioare transpirate, tulbur\u0103ri respiratorii, retard mental \u0219i motor<\/td>\nTip B<\/td>\n<\/tr>\n
Glutationuria<\/td>\nAnemie hemolitic\u0103<\/td>\nTip B<\/td>\n<\/tr>\n
Deficien\u021ba de beta-ketotiolaz\u0103<\/td>\nV\u0103rs\u0103turi, deshidratare, dificult\u0103\u021bi de respira\u021bie, letargie \u0219i convulsii (ocazional)<\/td>\nTip A<\/td>\n<\/tr>\n
Hiperoxalurie primar\u0103 tip 2<\/td>\nLitiaz\u0103 renal\u0103, insuficien\u021b\u0103 renal\u0103, afectarea altor organe<\/td>\nTip A<\/td>\n<\/tr>\n
Boala Hartnup<\/td>\nFotosensibilitate, anomalii oculare<\/td>\nTip A<\/td>\n<\/tr>\n
Hawkinsonuria<\/td>\nDisfunc\u021bie hepatic\u0103<\/td>\nTip C<\/td>\n<\/tr>\n
Histidinemia<\/td>\nRetard mental, anomalii renale<\/td>\nTip C<\/td>\n<\/tr>\n
Histidinuria<\/td>\nRetard mental, dismorfism facial<\/td>\nTip A<\/td>\n<\/tr>\n
Homocistinuria<\/td>\nRetard mental<\/td>\nTip A<\/td>\n<\/tr>\n
Hidroxilizinuria<\/td>\nRetard mental, tulbur\u0103ri de comportament, hiperactivitate<\/td>\nTip C<\/td>\n<\/tr>\n
Hiperhidroxiprolinemia<\/td>\nRetard mental<\/td>\nTip C<\/td>\n<\/tr>\n
Hiperglicinuria<\/td>\nRetard de cre\u0219tere<\/td>\nTip B<\/td>\n<\/tr>\n
Hiperleucin-izoleucinemia<\/td>\nConvulsii, retard de cre\u0219tere<\/td>\nTip B<\/td>\n<\/tr>\n
Hipermetioninemia<\/td>\nFacies neobi\u0219nuit, tulbur\u0103ri neurologice, retard motor<\/td>\nTip A<\/td>\n<\/tr>\n
Sindromul de hiperornitinemie, hiperamoniemie, hiperhomocitrulinemie (HHH)<\/td>\nV\u0103rs\u0103turi, letargie, retard de dezvoltare, tulbur\u0103ri de \u00eenv\u0103\u021bare<\/td>\nTip D<\/td>\n<\/tr>\n
Hiperpipecolatemia<\/td>\nRetard sever de dezvoltare<\/td>\nTip C<\/td>\n<\/tr>\n
Hiperprolinemia tip I<\/td>\nTulbur\u0103ri neurologice sau psihiatrice<\/td>\nTip C<\/td>\n<\/tr>\n
Hiperprolinemia tip II<\/td>\nConvulsii, retard mental<\/td>\nTip C<\/td>\n<\/tr>\n
Aminoaciduria imidiazolica<\/td>\nConvulsii, retard de dezvoltare<\/td>\nTip B<\/td>\n<\/tr>\n
Iminoglicinuria<\/td>\nRetard mental, manifest\u0103ri renale<\/td>\nTip C<\/td>\n<\/tr>\n
Boala Refsum infantil\u0103<\/td>\nCecitate \u0219i tulbur\u0103ri de auz\/retinit\u0103 pigmentar\u0103<\/td>\nTip C<\/td>\n<\/tr>\n
Acidemia izovaleric\u0103<\/td>\nSpasme datorate hipotermiei, miros de picioare transpirate<\/td>\nTip A<\/td>\n<\/tr>\n
Intoleran\u021ba la lactoz\u0103<\/td>\nRetard de dezvoltare<\/td>\nTip A<\/td>\n<\/tr>\n
Sindromul Lesch-Nyhan<\/td>\nRetard mental, automutil\u0103ri<\/td>\nTip C<\/td>\n<\/tr>\n
Deficien\u021ba de \u201elong-chain\u201d acil CoA dehidrogenaz\u0103 (LCAD)<\/td>\nSl\u0103biciune muscular\u0103, mialgii persistente<\/td>\nTip A<\/td>\n<\/tr>\n
Lizinuria<\/td>\nRetard mental<\/td>\nTip C<\/td>\n<\/tr>\n
Intoleran\u021ba la proteina lizinuric\u0103<\/td>\nRetard de cre\u0219tere<\/td>\nTip B<\/td>\n<\/tr>\n
Boala urinei cu miros de ar\u021bar<\/td>\nTulbur\u0103ri neurologice, letargie miros caracteristic al urinei (zah\u0103r ars)<\/td>\nTip A<\/td>\n<\/tr>\n
Deficien\u021ba de \u201emedium-chain\u201d acil CoA dehidrogenaz\u0103 (MCAD)<\/td>\nRetard de cre\u0219tere<\/td>\nTip A<\/td>\n<\/tr>\n
Acidemia metilmalonic\u0103 (MMA)<\/td>\nConvulsii, letargie<\/td>\nTip A<\/td>\n<\/tr>\n
Acidemia metilmalonic\u0103 datorat\u0103 metabolismului anormal, absorb\u021biei \u0219i transportului vitaminei B12<\/td>\nSl\u0103biciune muscular\u0103, convulsii, anemie<\/td>\nTip A<\/td>\n<\/tr>\n
Deficien\u021ba multipl\u0103 de carboxilaz\u0103 (MCD)<\/td>\nAcidoz\u0103 metabolic\u0103, hipotonie, retard de dezvoltare<\/td>\nTip A<\/td>\n<\/tr>\n
Acidemia mevalonic\u0103<\/td>\nDismorfism cranian, retard de dezvoltare<\/td>\nTip B<\/td>\n<\/tr>\n
Deficien\u021ba de metilmalonic semialdehid dehidrogenaz\u0103 (MMSDH)<\/td>\nAcidoz\u0103 metabolic\u0103,, letargie, convulsii<\/td>\nTip B<\/td>\n<\/tr>\n
Deficen\u021ba de N-acetilglutamat sintetaz\u0103 (NAGS)<\/td>\nComplica\u021bii neurologice<\/td>\nTip B<\/td>\n<\/tr>\n
Adrenoleucodistrofia neonatal\u0103<\/td>\nSl\u0103biciune muscular\u0103<\/td>\nTip D<\/td>\n<\/tr>\n
Neuroblastom<\/td>\nRegresie spontan\u0103<\/td>\nTip A<\/td>\n<\/tr>\n
Colestaza intrahepatic\u0103 neonatal\u0103 cauzat\u0103 de deficien\u021ba de citrin\u0103 (NICCD)<\/td>\nDisfunc\u021bie hepatic\u0103<\/td>\nTip A<\/td>\n<\/tr>\n
Deficien\u021ba de ornitintranscarbamilaz\u0103 (OTC)<\/td>\nComportament iritativ, retard de dezvoltare<\/td>\nTip A<\/td>\n<\/tr>\n
Aciduria orotic\u0103<\/td>\nMalforma\u021bii cardiace, anemie<\/td>\nTip B<\/td>\n<\/tr>\n
Deficien\u021ba par\u021bial\u0103 de hipoxantin-adenin fosforibozil transferaz\u0103<\/td>\nLitiaz\u0103 renal\u0103, tulbur\u0103ri de mi\u0219care<\/td>\nTip D<\/td>\n<\/tr>\n
Fenilcetonuria (PKU)<\/td>\nRetard de dezvoltare, tulbur\u0103ri de comportament<\/td>\nTip A<\/td>\n<\/tr>\n
Hiperoxaluria primar\u0103<\/td>\nColici renale asociate cu litiazei<\/td>\nTip A<\/td>\n<\/tr>\n
Acidemia propionic\u0103<\/td>\nLetargie, tulbur\u0103ri de nutri\u021bie, hipotonie<\/td>\nTip A<\/td>\n<\/tr>\n
Deficien\u021ba de glicerolkinaz\u0103<\/td>\nRetard de cre\u0219tere<\/td>\nTip A<\/td>\n<\/tr>\n
Deficien\u021ba de piruvat carboxilaz\u0103<\/td>\nTulbur\u0103ri respiratorii<\/td>\nTip D<\/td>\n<\/tr>\n
Deficien\u021ba de piruvat decarboxilaz\u0103<\/td>\nRetard de cre\u0219tere, retard psihomotor sever cu tulbur\u0103ri de vedere<\/td>\nTip D<\/td>\n<\/tr>\n
Deficien\u021ba de piruvat dehidrogenaz\u0103 (E1)<\/td>\nTulbur\u0103ri de nutri\u021bie, letargie \u0219i tulbur\u0103ri respiratorii<\/td>\nTip D<\/td>\n<\/tr>\n
Deficien\u021ba de piruvat dehidrogenaz\u0103 fosfataz\u0103<\/td>\nAcidoz\u0103 lactic\u0103 cu hipotonie<\/td>\nTip D<\/td>\n<\/tr>\n
Zaharopinuria<\/td>\nTr\u0103s\u0103turi dismorfice, statur\u0103 redus\u0103<\/td>\nTip C<\/td>\n<\/tr>\n
Deficien\u021ba de carbamilfosfat sintetaza I<\/td>\nComplica\u021bii neurologice<\/td>\nTip B<\/td>\n<\/tr>\n
Tirozinemia tip III<\/td>\nRetard mental u\u0219or, convusii, tulbur\u0103ri de echilibru<\/td>\nTip B<\/td>\n<\/tr>\n
Deficien\u021ba de carnozinaz\u0103 seric\u0103<\/td>\nHipotonie, retard de dezvoltare<\/td>\nTip C<\/td>\n<\/tr>\n
Deficien\u021ba de\u00a0 \u201eshort-chain\u201d acil CoA dehidrogenaz\u0103\u00a0 (SCAD)<\/td>\nHipoglicemie, letargie<\/td>\nTip A<\/td>\n<\/tr>\n
Citrulinemia tip II<\/td>\nAgita\u021bie, pierderea memoriei, comportament anormal, convulsii, com\u0103<\/td>\nTip B<\/td>\n<\/tr>\n
Timin uraciluria<\/td>\nRetard mental<\/td>\nTip D<\/td>\n<\/tr>\n
Tirozinemia tranzitorie a nou-n\u0103scutului<\/td>\nIcter prelungit, letargie<\/td>\nTip A<\/td>\n<\/tr>\n
Triptofanuria cu nanism<\/td>\nNanism, retard mental<\/td>\nTip B<\/td>\n<\/tr>\n
Tirozinemia datorat\u0103 disfunc\u021biei hepatice<\/td>\nDisfunc\u021bie hepatic\u0103<\/td>\nTip A<\/td>\n<\/tr>\n
Tirozinemia tip I<\/td>\nMiros carcateristic al urinei (de varz\u0103), disfunc\u021bie hepatic\u0103<\/td>\nTip A<\/td>\n<\/tr>\n
Tirozinemia tip II<\/td>\nFotosensibilitate, retard de dezvoltare<\/td>\nTip B<\/td>\n<\/tr>\n
Valinemia<\/td>\nRetard de cre\u0219tere, v\u0103rs\u0103turi<\/td>\nTip D<\/td>\n<\/tr>\n
Xantinuria<\/td>\nInsuficien\u021b\u0103 renal\u0103 acut\u0103<\/td>\nTip A<\/td>\n<\/tr>\n
Acidurie xanturenic\u0103<\/td>\nRetard mental<\/td>\nTip A<\/td>\n<\/tr>\n
Sindrom Zellweger-like<\/td>\nHipotonie, retard psihomotor sever<\/td>\n\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Tip D<\/td>\n<\/tr>\n
Sindrom Zellweger<\/td>\nHipotonie, tr\u0103s\u0103turi dismorfice<\/td>\nTip D<\/td>\n<\/tr>\n
Aciduria \u03b2-aminoizobutiric\u0103<\/td>\nTulbur\u0103ri neurologice<\/td>\nTip D<\/td>\n<\/tr>\n
Defecte \u00een biosinteza cofactorului biopterinei<\/p>\n

(BIOPT BS)<\/td>\n

Retard de dezvoltare, epilepsie, tulbur\u0103ri de comportament<\/td>\nTip B<\/td>\n<\/tr>\n
Defecte \u00een regenerarea cofactorului biopterinei<\/p>\n

(BIOPT REG)<\/td>\n

Dizabilitate intelectual\u0103, tulbur\u0103ri de mi\u0219care, dificult\u0103\u021bi de degluti\u021bie, convulsii<\/td>\nTip B<\/td>\n<\/tr>\n
Deficien\u021ba de galactokinaz\u0103 (GALK)<\/td>\nCataract\u0103, hepatosplenomegalie<\/td>\nTip B<\/td>\n<\/tr>\n
Deficien\u021ba de galactozo-epimeraz\u0103 (GALE)<\/td>\nRetard de cre\u0219tere \u0219i dezvoltare, dizabilitate intelectual\u0103, afectare hepatic\u0103 \u0219i renal\u0103<\/td>\nTip B<\/td>\n<\/tr>\n
Deficien\u021ba de izobutiril-CoA dehidrogenaza (IB)<\/td>\nAnemie, hipotonie, retard de dezvoltare<\/td>\nTip B<\/td>\n<\/tr>\n
Acidemia malonic\u0103 (MAL)<\/td>\nHipoglicemie, v\u0103rs\u0103turi, diaree, convulsii<\/td>\nTip B<\/td>\n<\/tr>\n
Deficien\u021ba de metilmalonil-CoA mutaz\u0103 (MUT)<\/td>\nCetoacidoz\u0103 sever\u0103, disfunc\u021bie psihomotorie, distonie<\/td>\nTip B<\/td>\n<\/tr>\n
Deficien\u021ba proteinei trifunc\u021bionale mitocondriale<\/td>\nLetargie, hipoglicemie, hipotonie, afectare hepatic\u0103<\/td>\nTip B<\/td>\n<\/tr>\n
Fructozuria<\/td>\nHepatomegalie, icter, ciroz\u0103, convulsii, retard de cre\u0219tere \u0219i mental<\/td>\nTip C<\/td>\n<\/tr>\n
Hipersarcozinemia<\/td>\nTulbur\u0103ri vizuale, cardiomiopatie, sinostoz\u0103 cranian\u0103, retard de cre\u0219tere \u0219i mental<\/td>\nTip C<\/td>\n<\/tr>\n
Deficien\u021ba de succinic semialdehid dehidrogenaz\u0103<\/td>\nHipotonie, hiporeflexie, convulsii, tulbur\u0103ri de mers neprogresive<\/td>\nTip D<\/td>\n<\/tr>\n
Histidinuria<\/td>\nRetard mental, defect de vorbire<\/td>\nTip D<\/td>\n<\/tr>\n
Deficien\u021ba de aminoacilaz\u0103 I<\/td>\nSurditate, sl\u0103biciune muscular\u0103, atrofie cerebral\u0103<\/td>\nTip D<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

Tipuri de interven\u021bie<\/u>:<\/p>\n

Tip A<\/strong> \u2013 m\u0103surile de preven\u021bie \u0219i tratament sunt foarte eficiente pentru aceast\u0103 afec\u021biune. \u00cen majoritatea cazurilor, copilul este s\u0103n\u0103tos sau prezint\u0103 complica\u021bii minore, dac\u0103 tratamentul se efectueaz\u0103 \u00een timp util.<\/p>\n

Tip B<\/strong> \u2013 Preven\u021bia acestei afec\u021biuni este mai dificil\u0103, \u00eens\u0103 diagnosticul corect este util pentru profilaxia \u0219i tratamentul complica\u021biilor acute cu poten\u021bial letal.<\/p>\n

Tip C<\/strong> \u2013 \u00cen general, aceste afec\u021biuni sunt considerate benigne. Totu\u0219i, \u00een aproximativ 10% din cazuri pot ap\u0103rea complica\u021bii ce necesit\u0103 interven\u021bie medical\u0103.<\/p>\n

Tip D<\/strong> \u2013 Aceste afec\u021biuni sunt mai severe, cu impact semnificativ asupra s\u0103n\u0103t\u0103\u021bii copiilor, chiar dac\u0103 sunt diagnosticate precoce. Diagnosticul corect este important pentru condi\u021biile de urgen\u021b\u0103 \u00een care este necesar\u0103 o terapie de sus\u021binere pentru a reduce simptomele \u0219i complica\u021biile.<\/p>\n

Recomand\u0103ri<\/em><\/strong>\u00a0 pentru efectuarea screening-ului neonatal<\/em><\/strong><\/p>\n