Rannsóknir - Heiti, ábendingar, grunnatriði
Heiti rannsóknar: Nýburaskimun
Annað heiti rannsóknar:
Markmið rannsóknar: Við nýburaskimun er skimað fyrir eftirfarandi arfgengum efnaskiptasjúkdómum, sem geta haft alvarlegar afleiðingar fyrir barnið, ef þeir ekki finnast sem fyrst eftir fæðingu:
“Primary” sjúkdómar.
Innkirtlasjúkdómar:
· Vanstarfsemi skjaldkirtils.
· Vanstarfsemi nýrnahettna.
Fitusýruoxunargalla (Fatty Acid Oxydation Defects)
· Carnitin Transport Defect/Carnitin Uptake Defect (CTD/CUD).
· Long-Chain L-3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD).
· Medium-chain acyl-CoA dehydrogenase deficiency (MCAD).
· Trifunctional protein deficiency (TFP).
· Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD).
Óeðlileg myndun lífrænna sýra (Organic Acidemias)
· Glutaric acidemia type 1 (GA-1).
· Isovaleric acidemia/Isovaleryl-CoA dehydrogenase deficiency (IVA).
· 3-Methylcrotonyl-CoA Carboxylase deficiency (3MCC).
· 3-Hydroxy3-methylglutaric aciduria/3-Hydroxy 3-methylglutaryl-CoA lyase deficiency (HMG).
· Beta ketothiolase def/Short-chain ketoacyl thiolase deficiency (BKT).
· Multiple carboxylase deficiency/Holocarboxylase synthetase deficiency (MCD/HLCS).
· Methylmalonic acidemia (Vitamin B12 disorders) (Cbl-A,B).
· Methylmalonic Acidemia/Methylmalonyl-CoA mutase deficiency (MUT).
· Propionic acidemia/Propionyl-CoA carboxylase deficiency (PROP).
Óeðlileg umsetning amínósýra (Aminoacidemias)
· Argininosuccinate acidemia (ASA).
· Citrullinemia type I/Argininosuccinate synthetase deficiency (CIT).
· Homocysteinuria/Cystathione beta synthase deficiency (HCY).
· Maple syrup urine disease/Branched-chain ketoacid dehydrogenase deficiency (MSUD).
· Phenylketonuria, Hyperphenylalaninemia (PKU).
· Tyrosinemia Type 1/Fumarylacetoacetate hydrolase deficiency (TYR-1).
· Non ketotic hyperglycinemia (NKHG).
“Secondary” sjúkdómar (mismunagreining)
Fitusýruoxunargallar (Fatty Acid Oxydation Defects)
· Carnitine-acylcarnitine translocase deficiency (CACT).
· Carnitine palmitoyltransferase I deficiency/Carnitine palmitoyltransferase Ia (CPTI).
· Carnitine palmitoyltransferase II deficiency/Carnitine palmitoyltransferase II (CPTII).
· Glutaric Acidemia Type II/Electron transfer flavoprotein -ETF; alpha, beta subunit (GA-II).
· Medium-chain ketoacyl-CoA thiolase deficiency/Medium chain ketoacyl-CoA thiolase deficiency (MCKAT).
· Medium/Short chain L-3-hydroxy acyl-CoA dehydrogenase deficiency (M/SCHAD)
· Short chain acyl-CoA dehydrogenase deficiency (SCAD).
· Dienoyl - CoA reductase deficiency (DERED).
Óeðlileg myndun lífrænna sýra (Organic Acidemias)
· 2-Methyl-3-hydroxybutyric aciduria/2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (2M3HBA).
· 3-Methylglutaconic aciduria/3-Methylglutaconyl-CoA hydratase (3MGA).
· 2-Methylbutyryl-CoA dehydrogenase deficiency/2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG).
· Methylmalonic acidemia and homocystinuria/MMA mutase og homocystein: MTHF methyl transferase (Cbl C,D).
· Isobutyrylglycineuria/Isobutyryl-CoA dehydrogenase deficiency (IBG).
· Malonic acidemia/Malonyl-CoA-decarboxylase deficiency (MAL).
Óeðlileg umsetning amínósýra (Aminoacidemias)
· Argininemia/Arginase deficiency (ARG).
· Defects of biopterin cofactor biosynthesis/6-pyrovyltetrahydropterin synthase (BIOPT-BS).
· Disorders of biopterin cofactor regeneration/Dihydropteridine reductase (BIOPT-REG).
· Citrullinemia Type II /Aspartate glutamate carrier <citrin> (CIT-II).
· Benign hyperphenylalaninemia/Phenylalanine hydroxylase (H-PHE).
· Hypermethioninemia/Methionine adenosyltransferase (MET).
· Tyrosinemia type II/Tyrosine transaminase (TYR-II).
· Tyrosinemia type III/4-hydroxyphenyl-pyruvate acid oxidase (TYR-III).
· Pyruvate carboxylase deficiency (PC).
Aðferð: TSH er mælt til að skima fyrir vanstarfsemi skjaldkirtils, en 17-hydroxyprogesterón til að skima fyrir vanstarfsemi nýrnahettna. Notaðar eru mæliaðferðir með hjálp mótefna (immunoassay, Delfia, Perkin Elmer, Finnlandi).
Raðmassagreinir er notaður til skimunar fyrir óeðlilegri umsetningu amínósýra.
Eftirfarandi amínósýrur eru mældar: Glýcín, Arginín, Arginínósuccýnic sýra, Alanín, Valín, Prólín, Histidín, Methylhistidín, Methíonín, Fenýlalanín, Serín, Threonín, Týrosín, Tryptofan, Aspartat, Glutamat, Glutamín, Ornitín, Lýsín, Citrullín, XLeucín (Leucín, Isoleucín, Alloisoleucín og Hydroxyprólín eru mæld saman).
Við skimun á fitusýruoxunargöllum og óeðlilegri myndun lífrænna sýra eru eftirfarandi acýlkarnitínafleiður mældar með raðmassagreini: Frítt karnitín (C0), Acetýlkarnitín (C2), Própíonýlkarnitín (C3), Butýrýlkarnitín (C4), Hydroxybutýrýlkarnitín (C4-OH), Methýlmalonýlkarnitín/Succinýlkarnitín (C4DC), Tiglylkarnitín) (C5:1), Isovalerýlkarnitín (C5), Hydroxyisovalerýlkarnitín (C5-OH), Hexanoýlkarnitín (C6), Octanoýlkarnitín (C8), Malonýlkarnitín (C3DC), Decenoýlkarnitín (C10:1), Decanoýlkarnitín (C10), Glutarýlkarnitín (C5DC), Dodecenoýlkarnitín (C12:1), Dodecanoýlkarnitín (C12), Tetradecanoýlkarnitín (C14), Tetradecenoýlkarnitín (C14:1), Tetradecadienoýlkarnitín (C14:2), Palmitóýlkarnitín (C16), Palmitóleoýlkarnitín (C16:1), Hydroxypalmitóýlkarnitín (C16-OH), Hydroxypalmitóleoýlkarnitín (C16:1-OH), Stearóýlkarnitín (C18), Oleýlkarnitín (C18:1), Linoleýlkarnitín (C18:2), Hydroxystearóýlkarnitín (C18-OH), Hydroxyóleýlkarnitín (C18:1-OH).
Eining ESD: Lífefnaerfðarannsóknir - nýburaskimun.
Ábendingar: Skimun fyrir arfgengum efnaskiptasjúkdómum í nýburum.
Pöntun: Beiðnin fyrir nýburaskimun og filterpappír eru með sama raðnúmeri, Sheilah Severino Snorrason deildarlífeindafræðingur á nýburaskimun (sheilah@landspitali.is), Saga Rúnarsdóttir (sagar@landspitali.is)senda beiðnirnar samkvæmt ósk. Einnig má panta beiðnir í síma: 543 5056 og 543 5039 og GSM 824 5238. Sýnishorn af nýburaskimunarbeiðni.
Með beiðnunum er sendur upplýsingabæklingur fyrir foreldra.
Verð: Grunngjald 26 einingar, viðbætur sjá Gjaldskrá