../ IS  
┌tgefi­ gŠ­askjal: Lei­beiningar
Skjaln˙mer: RklÝn-273
┌tg.dags.: 02/12/2019
┌tgßfa: 4.0
2.02.03.02.01 Glutaryl-CoA dehydrogenase

Samheiti: Glutaryl-Coenzyme A Dehydrogenase, GlutarylDehydrogenase, Glutaryl CoA,
Teki­ vi­ grun ß Glutaric acidemia type 1
Hide details for Sřnataka, geymsla og sřnasending Sřnataka, geymsla og sřnasending
Ekki taka sřni fimmtudaga e.h. nÚ f÷studaga.
Ger­ sřnis : EDTA-blˇ­
Sřni teki­ Ý glas me­ fjˇlublßum tappa ßn gels (sv÷rt mi­ja) . Litakˇ­i samkvŠmt Greiner
EKKI skilja ni­ur! Geyma sřni vi­ stofuhita

Magn: 6 ml (min 3 mL ) EDTA-blˇ­
Geymsla sřnis: For­ast kulda, sent sem fyrst.
Sřnasending: Hra­sending Ý umhverfishita.
Hide details for P÷ntunarkˇ­i Ý FlexLabP÷ntunarkˇ­i Ý FlexLab
Kˇ­i: ANNAđUT

Bei­ni: Bei­ni metaboliske-analyser.pdfBei­ni metaboliske-analyser.pdf
SvartÝmi 3 vikur en lengur ef a­rar rannsˇknir eru ß bei­ni.
Hide details for Heiti tilvÝsunarannsˇknastofu og heimilisfangHeiti tilvÝsunarannsˇknastofu og heimilisfang
Metabolisk Laboratorium
Klinisk Genetisk Klinik
RH 4062 Rigshospitalet
Blegdamsvej 9​
2100 K°benhavn ě

Tlf.: 3545 4062
Email: genetik.rigshospitalet@regionh.dk
Mette.Christensen.03@regionh.dk
Flemming.Wibrand@regionh.dk
Hide details for HeimildirHeimildir
    Rekvirering: Labka/rekvisitionsseddel
    Web-adresse til rekvisitionsseddel: Link til rekvisitionsseddel
    Kode (SP): NPU27073
    Analyse/unders°gelsesnavn – SP: Glutaryl-CoA-dehydrogenase;Lkc prot.
    Labkakode: LEGCDH
    Analyse/unders°gelsesnavn – Labka: Lkc prot.—Glutaryl-CoA-dehydrogenase
    Analyse/unders°gelsesnavn – langt: Lkc—Glutaryl-CoA-dehydrogenase ()
    Synonymer: GCDH
    Indikation: Mistanke om glutarsyreuri type 1
    Beskrivelse af analyse: Bestemmelse af enzymaktivitet (radiometri)
    Pr°vemateriale: EDTA-blod
    Volumen/mŠngde: 6 ml (min. 3 ml)
    Pr°vebeholder inkl. Additive: lilla6S (ved 3 ml: lilla3S) (Pr°ver°r med EDTA-stabilisator)
    MŠrkning af (primŠr) pr°vebeholder: Patientens CPR-nr. og navn
    Pr°vetagning, herunder sŠrlige forhold: Blodpr°ven b°r tages mandag-onsdag af hensyn til holdbarhed ved forsendelse.
    Opbevaring, holdbarhed og forsendelse: Mň IKKE nedk°les. Opbevares ved stuetemp. Skal modtages senest 24 timer efter pr°vetagning.

    Alm. postforsendelse: Mandag – onsdag efter gŠldende transportregler, men beskyttes mod kulde pň vinterdage.
    Mň ikke afsendes dagen f°r en helligdag.
    Svartid: 3 uger (evt. lŠngere ved samtidig rekvirering af andre analyser)
    Svarafgivelse: Pr. brev
    Kontaktmuligheder: Pr°vemodtagelsen: 3545 4061, https://www.rigshospitalet.dk/metlab
    Afleveringssted og afleveringstidspunkt: Metabolisk Laboratorium 4061
    Klinisk Genetisk Klinik
    Rigshospitalet
    Blegdamsvej 9
    2100 K°benhavn ě
    Mandag-torsdag: 8.00-15.00, fredag: 8.00-12.00
    Gyldig fra: 07/01/2015
    Akkrediteret: Nej
    Indtastet/gennemset af: 25/05/2016 Initialer : ERN
Frˇ­leikur: Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder. Worldwide prevalence is estimated at 1 in 100,000 births. Neonates are mainly asymptomatic, although 75 % present with macrocephaly and possibly show hypotonia and irritability. If undiagnosed, the initial acute encephalopathic crisis occurs between 3-36 months, typically precipitated by an intercurrent febrile illness, vaccination or a surgical intervention, and characterized by hypotonia, loss of motor skills and convulsions resulting in bilateral striatal injury with severe secondary dystonia and occasionally subdural and retinal hemorrhage. GDD can exceptionally present with hypoglycemia or acidosis. With age (>6 years) and with appropriate treatment, the risk of encephalopathic crises subsides. Prognosis depends on a timely diagnosis and consequential management and treatment. GDD is now regarded as a treatable neurometabolic disorder.

Glutaric acidemia type 1 (or "glutaric aciduria", "GA1", or "GAT1") is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan. Excessive levels of their intermediate breakdown products (glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, glutaconic acid) can accumulate and cause damage to the brain (and also other organs[1]), but particularly the basal ganglia, which are regions that help regulate movement. GA1 causes secondary carnitine deficiency, as glutaric acid, like other organic acids, is detoxified by carnitine. Mental retardation may also occur.



Ritstjˇrn

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

Sam■ykkjendur

┴byrg­arma­ur

═sleifur Ëlafsson

┌tgefandi

Sigr˙n H PÚtursdˇttir

Upp »


Skjal fyrst lesi­ ■ann 02/10/2017 hefur veri­ lesi­ 373 sinnum