Alberta Precision Laboratories

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Organization:

Alberta Precision Laboratories

Message Alert:

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Test Name/Synonym:

Acylcarnitine Profile, Blood

Clinical Indications:

This test is for the investigation of mitochondrial fatty acid oxidation disorders and certain organic acidurias.

This test may also be ordered to rule out the possibility of these disorders in a patient being assessed for the ketogenic diet.

This test may also be used to monitor known patients with certain mitochondrial fatty acid oxidation disorders or organic acidurias on diet-modified treatment.

Test Includes:

3-hydroxyisovaleryl-/2-methyl-3-hydroxybutyrylcarnitine (C5-OH)	isovaleryl-/2-methylbutyryl-/pivalylcarnitine (C5)
3-hydroxylinoleylcarnitine (C18:2-OH)	linoleylcarnitine (C18:2)
3-hydroxymyristoylcarnitine (C14-OH)	malonylcarnitine (C3-DC)
3-hydroxypalmitoylcarnitine (C16-OH)	methylmalonyl-/succinylcarnitine (C4-DC)
3-hydroxyoleylcarnitine (C18:1-OH)	myristoylcarnitine (C14)
3-hydroxystearoylcarnitine (C18-OH)	octanoylcarnitine (C8)
acetylcarnitine (C2)	octenoylcarnitine (C8:1)
adipyl-/methylglutarylcarnitine (C6-DC)	oleylcarnitine (C18:1)
butyryl-/isobutyrylcarnitine (C4)	palmitoleylcarnitine (C16:1)
decadienoylcarnitine (C10:2)	palmitoylcarnitine (C16)
decanoylcarnitine (C10)	propionylcarnitine (C3)
decenoylcarnitine (C10:1)	sebacoylcarnitine (C10-DC)
dodecanoylcarnitine (C12)	stearoylcarnitine (C18)
dodecenoylcarnitine (C12:1)	suberylcarnitine (C8-DC)
glutarylcarnitine (C5-DC)	tetradecadienoylcarnitine (C14:2)
hexadecanedioylcarnitine (C16-DC)	tetradecenoylcarnitine (C14:1)
hexanoylcarnitine (C6)	tiglylcarnitine (C5:1)

Additional metabolites reported from BCG South:

3-hydroxypalmitoleylcarnitine (C16:1-OH)

Collection Alert:

Hours fasting must be indicated. Recommend collection following a minimum four hour fast or just before next feeding for newborns.
Specimens collected from non-fasting patients will be accepted for testing.

LABID (Connect Care):

LAB4350

Specimen Type:

Blood

Primary Container:

Green top – Sodium heparin (no gel)

Alternate Containers:

Green top – Lithium heparin (no gel)
Red top – Non-additive (no gel)

Minimum Collection Volume:

0.5 mL plasma or serum

Specimen Collection Requirements:

Collect one Sodium Heparin (or alternate) tube.
Indicate length of fast, or time of last feeding on the requisition (with collection time).

Test Resources:

Submit request using the applicable requisition or Connect Care online order entry:

Biochemical Genetics Laboratory Requisition

Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.

Stability and Storage:

Frozen: plasma or serum aliquot

Processing:

For ALL collection locations except for Alberta Children’s Hospital (ACH):
1. Centrifuge; If red top tube is collected, allow to fully clot prior to centrifugation.
2. Transfer plasma or serum to aliquot tube.
3. Write "NaHep", "LiHep" or "Red Top" on the aliquot tube label.
4. Freeze aliquot tube.

If collected at ACH outpatient Lab:

The primary tube can be put on ice (ensure not to freeze sample) or refrigerated for routine pick-ups between 08:30 to 14:30, Monday through Friday (excluding holidays).
If specimen is collected after 14:30, process sample as described above.

Transportation:

Transport frozen specimens on dry ice.
Samples must not thaw during transport.

Method:

Liquid chromatography tandem mass spectrometry (LC-MS/MS)

Method and Interpretation of Results:

Acylcarnitines are detected following derivatization (i.e., butylation) using electrospray ionization tandem mass spectrometry (ESI-MS/MS) with deuterium-labelled internal standards.

Acylcarnitine analysis enables the diagnosis of specific disorders of fatty acid oxidation and certain organic acidurias, as relevant primary enzyme deficiencies result in the accumulation of specific acylcarnitines.

Disorders Detectable by Acylcarnitine Analysis:
1. Fatty Acid Oxidation Disorders:

short-chain acyl-CoA dehydrogenase (SCAD) deficiency
medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
medium/short-chain 3-hydroxyacyl-CoA dehydrogenase (M/SCHAD) deficiency
medium-chain 3-ketoacyl-CoA thiolase (MCKAT) deficiency
dienoyl-CoA reductase deficiency
very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and trifunctional protein (TFP) deficiencies
carnitine-acylcarnitine translocase (CACT) deficiency
carnitine palmitoyltransferase I (CPTI) and II (CPTII) deficiencies
electron transfer flavoprotein (ETF) and ETF-dehydrogenase deficiencies (a.k.a., multiple acyl-CoA dehydrogenase deficiency [MADD] or glutaric acidemia type II)

2. Organic Acid Disorders:

glutaryl-CoA dehydrogenase deficiency (glutaric acidemia type I; GA1)
propionyl-CoA carboxylase deficiency (propionic acidemia; PA)
methylmalonyl-CoA mutase deficiency (methylmalonic acidemia; MMA)
disorders of cobalamin metabolism
succinyl-CoA synthetase deficiency (SUCLA2/SUCLG1)
isovaleryl-CoA dehydrogenase deficiency (isovaleric acidemia; IVA)
3-hydroxy-3-methylglutaryl-CoA lyase (HMG-CoA lyase) deficiency
3-methylglutaconyl-CoA hydratase deficiency
3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency
isobutyryl-CoA dehydrogenase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency (short/branched chain acyl-CoA dehydrogenase [SBCAD] deficiency)
2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency
beta-ketothiolase (2-methylacetoacetyl-CoA thiolase or 3-oxothiolase) deficiency
malonyl-CoA decarboxylase deficiency (malonic acidemia)
ethylmalonic encephalopathy
multiple carboxylase deficiency (holocarboxylase synthetase deficiency and biotinidase deficiency)

Further confirmatory testing is required for some of these conditions, as nonspecific findings, isobaric species and overlapping patterns may prevent definitive diagnosis in specific cases.

Free carnitine is not reported as part of this test; therefore Carnitine, Total and Free - Blood (ACH) should be ordered separately if there is suspicion of a systemic carnitine deficiency.

Urine organic acids will be reflexively performed on any existing sample if the results of the plasma acylcarnitine indicate the need for further investigation or metabolite discrimination.

Routine Turn Around Time:

14 days

Testing Schedule:

Weekly

Reference Interval:

Provided on test report based on patient age.

Testing Area:

Biochemical Genetics

Performing Site:

Alberta Children's Hospitall or University of Alberta Hospital

Additional Test Information:

For priority turn-around contact Biochemical Genetics South Laboratory.

Contact Comments:

Biochemical Genetics South	Biochemical Genetics North
403-955-7379	780-407-8820

Last Updated On:

Monday, July 8, 2024

Date of Last Review:

Jul 8 2024 12:00AM