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Test ID ACRN Acylcarnitines, Quantitative, Plasma

Useful For

Diagnosis of fatty acid oxidation disorders and several organic acidurias

 

Evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias

Testing Algorithm

The following algorithms are available in Special Instructions:

-Newborn Screening Follow-up for Elevations of C8, C6, and C10 Acylcarnitines (also applies to any plasma C8, C6, and C10 acylcarnitine elevations)

-Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma C4 acylcarnitine elevation)

-Newborn Screening Follow-up for Isolated C5 Acylcarnitine Elevations (also applies to any plasma C5 acylcarnitine elevation)

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

Reporting Name

Acylcarnitines, Quantitative, P

Specimen Type

Varies

Specimen Type: Plasma

Collection Container/Tube:

Preferred: Green top (sodium heparin)

Acceptable: Lavender top (EDTA) or lithium heparin

Submission Container/Tube: Plastic vial

Specimen Volume: 0.1 mL

Collection Instructions: Draw specimen just prior to a scheduled meal or feeding.

Additional Information:

1. Patient's age is required.

2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.

Forms: If not ordering electronically, complete, print, and send a Neurology Test Request Form-General (T732) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/neurology-request-form.pdf)

Specimen Minimum Volume

0.04 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Frozen (preferred) 92 days
  Refrigerated  64 days
  Ambient  8 days

Clinical Information

Acylcarnitine analysis enables the diagnosis of many disorders of fatty acid oxidation and several organic acidurias, as relevant enzyme deficiencies cause the accumulation of specific acyl-CoAs. Fatty acid oxidation (FAO) plays a major role in energy production during periods of fasting. When the body's supply of glucose is depleted, fatty acids are mobilized from adipose tissue, taken up by the liver and muscles, and oxidized to acetyl-CoA. In the liver, acetyl-CoA is the building block for the synthesis of ketone bodies, which enter the blood stream and provide an alternative substrate for production of energy in other tissues when the supply of glucose is insufficient to maintain a normal level of energy. The acyl groups are conjugated with carnitine to form acylcarnitines, which are measured by tandem mass spectrometry (MS/MS). Diagnostic results are usually characterized by a pattern of significantly elevated acylcarnitine species compared to normal and disease controls.

 

In general, more than 20 inborn errors of metabolism can be identified using this method including FAO disorders and organic acidurias. The major clinical manifestations associated with individual FAO disorders include hypoketotic hypoglycemia, variable degrees of liver disease and/or failure, skeletal myopathy, dilated/hypertrophic cardiomyopathy, and sudden or unexpected death. Organic acidurias also present as acute life-threatening events early in life with metabolic acidosis, increased anion gap, and neurologic distress. Patients with any of these disorders are at risk of developing fatal metabolic decompensations following the acquisition of even common viral infections. Once diagnosed, these disorders can be treated by avoidance of fasting, special diets, and cofactor/vitamin supplementation.

 

Analysis of acylcarnitines in blood and bile spots represents the first level of evaluation of a complete postmortem investigation of a sudden or unexpected death of an individual. Additional confirmatory testing is recommended. The diagnosis of an underlying FAO disorder or organic aciduria allows genetic counseling of the family, including the possible option of future prenatal diagnosis, and testing of at-risk family members of any age.

 

Disorders Detectable by Acylcarnitine Analysis*

Fatty Acid Oxidation Disorders:

-Short-chain acyl-CoA dehydrogenase (SCAD) deficiency

-Medium/Short-chain 3-hydroxyacyl-CoA dehydrogenase (M/SCHAD) deficiency

-Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

-Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency & trifunctional protein deficiency

-Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency

-Carnitine palmitoyl transferase type II (CPT-II) deficiency

-Carnitine-acylcarnitine translocase (CACT) deficiency

-Electron transfer flavoprotein (ETF) deficiency, ETF-dehydrogenase deficiency (multiple acyl-CoA dehydrogenase deficiency [MADD]; glutaric acidemia type II) 

Organic Acid Disorders:

-Glutaryl-CoA dehydrogenase deficiency (glutaric acidemia type I)

-Propionic Acidemia

-Methylmalonic Acidemia

-Isovaleric Acidemia

-3-hydroxy-3-methylglutaryl-CoA carboxylase deficiency

-3-Methylcrotonyl carboxylase deficiency

-Biotinidase deficiency

-Multiple carboxylase deficiency

-Isobutyryl-CoA dehydrogenase deficiency

-2-Methylbutyryl-CoA dehydrogenase deficiency

-Beta-ketothiolase deficiency

-Malonic aciduria

-Ethylmalonic encephalopathy

*Further confirmatory testing is required for most of these conditions because an acylcarnitine profile can be suggestive of more than 1 condition.

Reference Values

 

≤7 days (nmol/mL)

8 days-7 years

(nmol/mL)

≥8 years

(nmol/mL)

Acetylcarnitine, C2

2.14-15.89

2.00-27.57

2.00-17.83

Acrylylcarnitine, C3:1

<0.04

<0.05

<0.07

Propionylcarnitine, C3

<0.55

<1.78

<0.88

Formiminoglutamate, FIGLU

<0.43

<0.08

<0.14

Iso-/Butyrylcarnitine, C4

<0.46

<1.06

<0.83

Tiglylcarnitine, C5:1

<0.05

<0.09

<0.11

Isovaleryl-/2-Methylbutyrylcarn C5

<0.38

<0.63

<0.51

3-OH-iso-/butyrylcarnitine, C4-OH

<0.13

<0.51

<0.18

Hexenoylcarnitine, C6:1

<0.12

<0.10

<0.15

Hexanoylcarnitine, C6

<0.14

<0.23

<0.17

3-OH-isovalerylcarnitine, C5-OH

<0.08

<0.12

<0.10

Benzoylcarnitine

<0.13

<0.07

<0.10

Heptanoylcarnitine, C7

<0.05

<0.05

<0.06

3-OH-hexanoylcarnitine, C6-OH

<0.08

<0.19

<0.09

Phenylacetylcarnitine

<0.15

<0.22

<0.29

Salicylcarnitine

<0.08

<0.09

<0.09

Octenoylcarnitine, C8:1

<0.48

<0.91

<0.88

Octanoylcarnitine, C8

<0.19

<0.45

<0.78

Malonylcarnitine, C3-DC

<0.09

<0.14

<0.26

Decadienoylcarnitine, C10:2

<0.11

<0.12

<0.26

Decenoylcarnitine, C10:1

<0.25

<0.46

<0.47

Decanoylcarnitine, C10

<0.27

<0.91

<0.88

Methylmalonyl-/succinylcarn, C4-DC

<0.05

<0.05

<0.05

3-OH-decenoylcarnitine, C10:1-OH

<0.12

<0.12

<0.13

Glutarylcarnitine, C5-DC

<0.06

<0.10

<0.11

Dodecenoylcarnitine, C12:1

<0.19

<0.37

<0.35

Dodecanoylcarnitine, C12

<0.18

<0.35

<0.26

3-Methylglutarylcarnitine, C6-DC

<0.28

<0.21

<0.43

3-OH-dodecenoylcarnitine, C12:1-OH

<0.11

<0.10

<0.13

3-OH-dodecanoylcarnitine, C12-OH

<0.06

<0.09

<0.08

Tetradecadienoylcarnitine, C14:2

<0.09

<0.13

<0.18

Tetradecenoylcarnitine, C14:1

<0.16

<0.35

<0.24

Tetradecanoylcarnitine, C14

<0.11

<0.15

<0.12

Octanedioylcarnitine, C8-DC

<0.25

<0.19

<0.19

3-OH-tetradecenoylcarnitine C14:1OH

<0.06

<0.18

<0.13

3-OH-tetradecanoylcarnitine, C14-OH

<0.04

<0.05

<0.08

Hexadecenoylcarnitine, C16:1

<0.15

<0.21

<0.10

Hexadecanoylcarnitine, C16

<0.36

<0.52

<0.23

3-OH-hexadecenoylcarnitine,C16:1-OH

<0.78

<0.36

<0.06

3-OH-hexadecanoylcarnitine, C16-OH

<0.10

<0.07

<0.06

Octadecadienoylcarnitine, C18:2

<0.12

<0.31

<0.24

Octadecenoylcarnitine, C18:1

<0.25

<0.45

<0.39

Octadecanoylcarnitine, C18

<0.10

<0.12

<0.14

Dodecanedioylcarnitine, C12-DC

<0.10

<0.04

<0.04

3-OH-octadecadienoylcarn, C18:2-OH

<0.04

<0.06

<0.06

3-OH-octadecenoylcarnitine C18:1-OH

<0.03

<0.04

<0.06

3-OH-octadecanoylcarnitine, C18-OH

<0.03

<0.05

Cautions

In a few instances, false-negative results occur in the analysis of acylcarnitine profiles. For some disorders, such as medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, the calculation of ratios between different acylcarnitine species provides a discriminate factor to overcome such problems. Where applicable, the calculation of such ratios will be incorporated in the routine acylcarnitine analysis. Informative profiles may also not be detected in some disorders where the accumulation of diagnostic acylcarnitines is a reflection of the residual activity of the defective enzyme, the dietary load of precursors, and the anabolic/catabolic and treatment status of a patient.

 

Patients with carnitine deficiency may not exhibit abnormally high acylcarnitine concentrations. If the results are indicative for carnitine deficiency, the interpretation will include a remark that this limits the diagnostic value of the test and repeat analysis may be considered following carnitine supplementation.

 

Follow-up testing such as in vitro enzyme assays or molecular genetic testing may be recommended following abnormal acylcarnitine results. It is not advisable to intentionally stress the patient's metabolism (eg, fasting test) prior to specimen collection for acylcarnitine analysis.

Day(s) Performed

Monday through Friday

Report Available

2 days (not reported on Sunday)

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

82017

NY State Approved

Conditional