../ IS  
┌tgefi­ gŠ­askjal: Lei­beiningar
Skjaln˙mer: RklÝn-298
┌tg.dags.: 02/12/2019
┌tgßfa: 5.0
2.02.03.02.01 AmÝnˇsřrur Ý ■vagi, Metabolisk screening

Samheiti: Skima­ fyrir aminˇsřrum, organÝskum sřrum, kolhydr÷tum og s˙rum m˙kˇpˇlysakkarÝ­um Ý ■vagi
Hide details for Sřnataka, geymsla og sřnasending Sřnataka, geymsla og sřnasending
Ger­ sřnis: Ůvagsřni ("spot")
Skimun (screening) ekki magnmŠling

Magn: 10 mL (min 4 ml ) Mß safna yfir tvo daga.
Geymsla sřnis: Frystir
Sřnasending: Hra­sending ß ■urrÝs
Hide details for P÷ntunarkˇ­i Ý FlexLabP÷ntunarkˇ­i Ý FlexLab
Kˇ­i: ŮAMI

Bei­ni: Bei­ni metaboliske-analyser.pdfBei­ni metaboliske-analyser.pdf

SvartÝmi vika en lengur ef a­rar rannsˇknir eru ß s÷mu bei­ni.
Hide details for Heiti tilvÝsunarannsˇknastofu og heimilisfangHeiti tilvÝsunarannsˇknastofu og heimilisfang
Metabolisk Laboratorium
Klinisk Genetisk Klinik
RH 4061 Rigshospitalet
Blegdamsvej 9​
2100 K°benhavn ě

Tlf.: 3545 4062 / 3545 4061

Email:
Anne Sylvest Olsen <Anne.Sylvest.Olsen@regionh.dk>á

Flemming Wibrand <Flemming.Wibrand@regionh.dk>
Mette.Christensen.03@regionh.dk
Michelle Sofie Lage <michelle.sofie.lage.01@regionh.dk>


SekretŠr

Tlf.: 3545 4062

Laboratorieleder

Flemming Wibrand
Tlf.: 3545 4617

flemming.wibrand@regionh.dk

Kliniske sp°rgsmňl:

Allan Meldgaard Lund
Tlf.: 3545 2793

allan.meldgaard.lund@regionh.dk

Bioanalytikere

Tlf.: 3545 4862
eller 4592 4061 á​​

Hide details for HeimildirHeimildir


DŠmi um aminosřrur em eru mŠldar Ý skimun ■vags ß Rigshospitalet..pdfDŠmi um aminosřrur em eru mŠldar Ý skimun ■vags ß Rigshospitalet..pdf
Kode (SP)EPC00116
Analyse/unders°gelsesnavn - SPMetabolisk screening;U
LabkakodeUSCRE
Analyse/unders°gelsesnavn - LabkaU—Metabolisk screening
Analyse/unders°gelsesnavn - langtMetabolisk urinscreeningá()
SynonymerUrinmetabolisk screening
IndikationMistanke om metabolisk sygdom. Der screenes for bl.a organiske acidurier, aminoacidopatier og mukopolysakkaridoser. Unders°gelsen b°r som udgangspunkt suppleres med bestemmelse af P-Aminosyrer
Beskrivelse af analyseAnalysens/unders°gelsens indhold: Organiske syrer (NPU27007), Aminosyrer (NPU14178), Glykosaminoglykaner (NPU54759), Reducerende kulhydrater (Benedicts test) (NPU14142), TLC af kulhydrater (NPU54762), Stixtest (pH, protein, glukose, ketonstoffer, blod, nitrit) (NPU14924), Urat (NPU27055)áog Kreatinin (NPU09102)
Oplysninger ved rekvireringKliniske oplysninger bedes oplyst i forbindelse med rekvirering
Pr°vematerialeUrin
Volumen/mŠngde10 ml (min. 4 ml) Kan opsamles over 1-2 dage.
Pr°vebeholder inkl. additiverSpids PS (Klart plastspidsglas, usterilt med skruelňg)
MŠrkning af (primŠr) pr°vebeholderPatientens CPR-nr. og navn
Opbevaring, holdbarhed og forsendelseSpidsglasset fryses straks ved -20 ░C.

Alm. postforsendelse: Mandag – onsdag i frossen tilstand efter gŠldende transportregler pň t°ris. Mň ikke afsendes dagen f°r en helligdag.
Opbevares ved -20 ░C indtil forsendelse.
Svartid1 uge (evt. lŠngere ved samtidig rekvirering af andre analyser)
SvarafgivelsePr. brev
Afledte analyser i laboratorietVed sŠrlige kliniske karakteristika, fx kramper (angivet pň rekvisitionssedlen) eller ved abnorm udskillelse af urat analyseres der som udgangspunkt ogsň for puriner og pyrimidiner (U-Puriner + pyrimidiner)
KontaktmulighederPr°vemodtagelsen: 3545 4061, https://www.rigshospitalet.dk/metlab
Afleveringssted og afleveringstidspunktMetabolisk Laboratorium 4061
Klinisk Genetisk Klinik
Rigshospitalet
Blegdamsvej 9
2100 K°benhavn ě
Mandag-torsdag: 8.00-15.00, fredag: 8.00-12.00
Gyldig fra07/01/2015


Frˇ­leikur: Amino acids are the basic structural units that comprise proteins and are found throughout the body. Many inborn errors of amino acid metabolism that affect amino acid transport or metabolism have been identified, such as phenylketonuria and tyrosinemia. Amino acid disorders can manifest at any age, but most become evident in infancy or early childhood. These disorders result in the accumulation or the deficiency of 1 or more amino acids in biological fluids, which leads to the clinical signs and symptoms of the particular amino acid disorder.

The clinical presentation is dependent upon the specific amino acid disorder. In general, affected patients may experience failure to thrive, neurologic symptoms, digestive problems, dermatologic findings, and physical and cognitive delays. If not diagnosed and treated promptly, amino acid disorders can result in mental retardation and death.


Organic acid profiles in urine at some organic acidurias

Elevated urine organic acidsDiseaseEnzyme defect
2-Ketoisocaproate,
2-hydroxycaproate,
2-keto-3-methylvalerate, 2-ketoisovalerate,
2-hydroxyisovalerate
Maple syrup urine diseaseBranched-chain
a-ketoacid
dehydrogenase
3-Hydroxy 3-methylglutarate,
3-methylglutaconate,
3-hydroxyisovalerate
HMG CoA lyase deficiency3-hydroxy 3-methyl
glutaryl (HMG) CoA
lyase
Isovalerylglycine,
3-hydroxyisovalerate, lactate,
3-hydroxybutyrate, acetoacetate
Isovaleric aciduriaIsovaleryl-CoA
Dehydrogenase
3-Methylcrotonate,
3-methylcrotonylglycine,
3-hydroxyisovalerate
3-Methyl crotonyl glycinuria3-Methylcrotonyl
CoA carboxylase
3-Methylcrotonate,
3-methylcrotonylglycine,
3-hydroxyisovalerate, propionate,
3-hydroxypropionate, methylcitrate, tigylglycine, lactate,
3-hydroxy butyrate, acetoacetate
Multiple carboxylase deficiencyHolocarboxylase
synthetase
Biotinidase
Methylmalonate, methylcitrate,
3-hydroxybutyrate acetoacetate
Methylmalonic aciduriaMethylmalonyl-CoA
mutase or cobalamin
defects
Propionate, 3-hydroxypropionate, propionylglycine, methylcitrate, tigylglycine, 3-hydroxybutyrate, acetoacetatePropionic aciduriaPropionyl CoA
Carboxylase
Glutarate, 3-hydroxyglutarateGlutaric aciduria, type IGlutaryl-CoA
Dehydrogenase
Glutarate, 2-hydroxyglutarate, ethylmalonate, adipate, suberate, sebacate, dodecanedioate, isovalerylglycine, hexanoylglycineGlutaric aciduria,
type II
Electron transfer
flavoprotein
dehydrogenase
N-AcetylaspartateCanavan diseaseAspartoacylase


Ritstjˇrn

KristÝn Sigurgeirsdˇttir
Sigr˙n H PÚtursdˇttir
Gu­mundur Sig■ˇrsson
Ingibj÷rg Loftsdˇttir

Sam■ykkjendur

┴byrg­arma­ur

═sleifur Ëlafsson

┌tgefandi

Sigr˙n H PÚtursdˇttir

Upp »


Skjal fyrst lesi­ ■ann 02/16/2017 hefur veri­ lesi­ 365 sinnum