Rekvirering Labka/rekvisitionsseddel Web-adresse til rekvisitionsseddel Link til rekvisitionsseddel Kode (SP) NPU26969 Analyse/undersøgelsesnavn - SP Acylkarnitiner+Karnitin gruppe;P Labkakode ACYLCAR Analyse/undersøgelsesnavn - Labka P—Acylkarnitiner+Karnitin gruppe Analyse/undersøgelsesnavn - langt P—Acylkarnitiner + karnitin () Synonymer Acylkarnitiner og fri karnitin i plasma Indikation Mistanke om defekt i nedbrydningen af fedtsyrer (betaoxidationsdefekter) Beskrivelse af analyse UPLC-MS/MS Oplysninger ved rekvirering Kliniske oplysninger bedes oplyst i forbindelse med rekvirering Prøvemateriale EDTA-plasma Volumen/mængde 1 ml (min. 0,5 ml) Prøvebeholder inkl. additiver lilla2H (Prøverør med EDTA-stabilisator) Mærkning af (primær) prøvebeholder Patientens CPR-nr. og navn Opbevaring, holdbarhed og forsendelse Efter 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 Svartid 2 uger (evt. længere ved samtidig rekvirering af andre analyser) Svarafgivelse Pr. brev Kontaktmuligheder Prøvemodtagelsen: 3545 4061, https://www.rigshospitalet.dk/metlab Afleveringssted og afleveringstidspunkt Metabolisk Laboratorium 4061 Klinisk Genetisk Klinik Rigshospitalet Blegdamsvej 9 2100 København Ø Mandag-torsdag: 8.00-15.00, fredag: 8.00-12.00 Gyldig fra 01/07/2015 Akkrediteret Nej Indtastet/gennemset af 24/05/2016 Initialer : ERN

• 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.

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

• fever
• diarrhea
• vomiting
• hypoglycemia

• muscle weakness
• seizures
• breathing problems
• coma, sometimes leading to death

 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

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.