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Útgefið gæðaskjal: Leiðbeiningar
Skjalnúmer: Rklín-250
Útg.dags.: 03/02/2023
Útgáfa: 8.0
2.02.02.01 Karnitín og acylkarnitín

Karnitin, P-Karnitin
Hide details for Sýnataka, geymsla og sýnasending Sýnataka, geymsla og sýnasending
Gerð sýnis : EDTA-plasma
Sýni tekið í glas (inniheldur EDTA) með fjólubláum tappa án gels (svört miðja)
Litakóði samkvæmt Greiner

Magn: 1 mL ( min 0,5ml ) plasma (sem þýðir 1,5 ml EDTA-blóð)
Geymsla sýnis: Frystir.
Sýnasending: Hraðsending á þurrís.
Hide details for Pöntunarkóði í FlexLabPöntunarkóði í FlexLab
Kóði: ANNAÐUT
Beiðni: Rekvisition til metaboliske analyser (003).pdfRekvisition til metaboliske analyser (003).pdf

Mæling tekur 2 vikur en lengur ef beðið er um fleiri rannsóknir á beiðni
Hide details for Heiti tilvísunarannsóknastofu og heimilisfangHeiti tilvísunarannsóknastofu og heimilisfang
​Metabolisk Laboratorium
Klinisk Genetisk Klinik
RH 4062 Rigshospitalet
Blegdamsvej 9​
2100 København Ø

Tlf.: 3545 4062

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

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

Metabolisk Laboratorium - afsnit 4062
Indgang 4, 6. sal
Juliane Maries Vej 8​
2100 København Ø 


Sekretær

Tlf.: 3545 4062

Laboratorieleder

Flemming Wibrand
Tlf.: 3545 4617

flemming.wibrand@regionh.dk

Kliniske spørgsmål:

Allan Meldgaard Lund
Tlf.: 3545 2793

allan.meldgaard.lund@regionh.dk

Bioanalytikere

Tlf.: 3545 4862
eller 4592 4061

Hide details for HeimildirHeimildir

RekvireringLabka/rekvisitionsseddel
Web-adresse til rekvisitionsseddelLink til rekvisitionsseddel
Kode (SP)NPU26969
Analyse/undersøgelsesnavn - SPAcylkarnitiner+Karnitin gruppe;P
LabkakodeACYLCAR
Analyse/undersøgelsesnavn - LabkaP—Acylkarnitiner+Karnitin gruppe
Analyse/undersøgelsesnavn - langtP—Acylkarnitiner + karnitin ()
SynonymerAcylkarnitiner og fri karnitin i plasma
IndikationMistanke om defekt i nedbrydningen af fedtsyrer (betaoxidationsdefekter)
Beskrivelse af analyseUPLC-MS/MS
Oplysninger ved rekvireringKliniske oplysninger bedes oplyst i forbindelse med rekvirering
PrøvematerialeEDTA-plasma
Volumen/mængde1 ml (min. 0,5 ml)
Prøvebeholder inkl. additiverlilla2H (Prøverør med EDTA-stabilisator)
Mærkning af (primær) prøvebeholderPatientens CPR-nr. og navn
Opbevaring, holdbarhed og forsendelseEfter centrifugering (2800 g, 10 min), fryses plasma straks ved -20 °C.

Alm. postforsendelse: Mandag – onsdag i frossen tilstand efter gældende transportregler på tøris. Må ikke afsendes dagen før en helligdag.
Opbevares ved -20 °C indtil forsendelse
Svartid2 uger (evt. længere ved samtidig rekvirering af andre analyser)
SvarafgivelsePr. brev
KontaktmulighederPrøvemodtagelsen: 3545 4061, https://www.rigshospitalet.dk/metlab
Afleveringssted og afleveringstidspunktMetabolisk Laboratorium 4061
Klinisk Genetisk Klinik
Rigshospitalet
Blegdamsvej 9
2100 København Ø
Mandag-torsdag: 8.00-15.00, fredag: 8.00-12.00
Gyldig fra01/07/2015
AkkrediteretNej
Indtastet/gennemset af24/05/2016 Initialer : ERN
Fróðleikur:
Carnitine is an important nutrient that is present in diet (particularly in meat and dairy products) and is synthesized from amino acids. Carnitine has two principal functions in the organism. One is to transport long-chain fatty acids into the mitochondrion.

Fatty acyl CoA is impermeable to the inner mitochondrial membrane, so it is carried in the form of fatty acyl carnitine.


Fatty Acyl CoA Regeneration
  • Fatty acyl carnitine is transported across the inner mitochondrial membrane in exchange for carnitine by an antiport translocase.
  • In the mitochondrial matrix fatty acyl carnitine reacts with CoA in a reaction catalyzed by carnitine acyltransferase II (CAT-II), yielding fatty acyl CoA and carnitine.

The fatty acyl CoA is now ready to undergo beta-oxidation.

Energy from fat keeps us going whenever our bodies run low of their main source of energy, a type of sugar called glucose. Our bodies rely on fat for energy when we don't eat for a stretch of time - like when we miss a meal or when we sleep.

When the CAT (Carnitine Acylcarnitin Tranlocase) normal enzyme is missing or not working well, the body cannot use fat for energy, and must rely solely on glucose. Although glucose is a good source of energy, there is a limited amount available. Once the glucose has been used up, the body tries to use fat without success. This leads to low blood sugar, called hypoglycemia, and to the build up of harmful substances in the blood.

If CAT deficiency is not treated, what problems occur?

CAT deficiency can cause episodes of illness called metabolic crises. Some of the first symptoms of a metabolic crisis are:

  • extreme sleepiness
  • behavior changes
  • irritable mood
  • poor appetite

Other symptoms then follow:
  • fever
  • diarrhea
  • vomiting
  • hypoglycemia

If a metabolic crisis is not treated, a child with CAT deficiency can develop:
  • muscle weakness
  • seizures
  • breathing problems
  • coma, sometimes leading to death

There are two forms of CAT deficiency. The most common type happens in newborns. A milder, less common type happens in older infants and children.

 CAT deficiency in newborns
Newborns with CAT deficiency often show symptoms within the first week of life. Episodes of metabolic crisis are common. High levels of
ammonia in the blood can occur. This can cause serious brain damage. 

Newborns with CAT may also have:

  • low muscle tone (floppy muscles and joints) and muscle weakness
  • enlarged liver
  • heart problems and enlarged heart
  • breathing problems

Babies who are not treated usually die of heart problems, breathing problems, liver failure or high levels of ammonia in the blood.

CAT deficiency in children
Children with the mild type of CAT deficiency usually start having symptoms before age three. They are at risk to have episodes of metabolic crisis, but usually do not have heart problems.  

In both types of CAT deficiency, symptoms often happen after having nothing to eat for more than a few hours. Symptoms are also more likely when a person with CAT deficiency gets sick or has an infection. 


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