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22166 Acylcarnitines, Quantitative (ACRN)

Acylcarnitines, Quantitative (ACRN)
Test Code: ACRNSO
Synonyms/Keywords
2-Methylbutyryl-CoA Dehydrogenase Deficiency
3-Methylcrotonyl Carboxylase Deficiency
Biotinidase (Multiple Carboxylase) Deficiency
CPT-II (Carnitine Palmitoyl Transferase Deficiency Type II)
Electron-Transfer Flavoprotein (ETF) Deficiency
Glutaric Acidemia (GA)
Glutaric Acidemia Type I (GA I)
Glutaric Acidemia Type II (GA II)
Glutaryl-CoA Dehydrogenase (GCDH) Deficiency
Isobutyryl-CoA Dehdrogenase (IBDH) Deficiency
Isovaleric Acidemia (IVA)
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency
MADD (Multiple Acyl-CoA Dehydrogenase Deficiency)
Malonic aciduria
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Methylmalonic Acidemia
Methylmalonic Aciduria (MMA)
Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
S/MCHAD (Short/Medium-Chain 3-Hydroxyacyl-CoA Dehydrogenase) Deficiency
SCAD (Short-Chain Acyl-CoA Dehydrogenase) Deficiency
Short/Medium-Chain 3-Hydroxyacyl-CoA Dehydrogenase (S/MCHAD) Deficiency
Trifunctional Protein (TFP) Deficiency
Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
2-Methyl-3-hydroxybutyryl CoA Dehydrogenase Deficiency
3-Hydroxy-3-Methylglutaryl-CoA (HMG-CoA) Lyase Deficiency
3-Methylglutaconyl-CoA Hydratase Deficiency
Beta-ketothiolase Deficiency
Carnitine-acylcarnitine Translocase (CACT) Deficiency
Formiminoglutamic Aciduria (FIGLU)
Formiminotransferase (FIGLU) Deficiency
Holocarboxylase Synthetase Deficiency
Succinyl-CoA Ligase (SUCLA2) Deficiency
SUCLA2 (Succinyl-CoA Ligase) Deficiency
3-Methylglutaconic Aciduria Type I
3-Methylglutaconic Aciduria Type 1
Propionic Acidemia (PA)
Useful For
​Diagnosis of fatty acid beta-oxidation disorders and several organic acidurias
 
Evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias
Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
Plasma​ Sodium-heparin Green Top Tube (GTT)​ EDTA Lavender Top Tube (LTT) or lithium heparin​ 0.1 mL​ 0.04 mL​
Collection Processing Instructions

​Submit sample in a plastic vial.

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.
Specimen Stability Information
Specimen Type Temperature Time
​ ​ ​Plasma​ ​ ​ Frozen (preferred)​ 92 days​
Refrigerated ​ 64 days​
Ambient ​ 8 days​
Interference

​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.

Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
Mayo Clinic Laboratories
Monday, Wednesday, Thursday, Friday​
2 days​
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)​
Reference Lab
Test 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 can be 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 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 infections. Once diagnosed, these disorders can be treated by avoidance of fasting, special diets, and cofactor and vitamin supplementation. 

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. 

The following disorders are detectable by acylcarnitine analysis. However, further confirmatory testing is required for most of these conditions because an acylcarnitine profile can be suggestive of more than one condition. 

Fatty Acid Oxidation Disorders:

-Carnitine palmitoyltransferase I (CPTI) deficiency

-Medium-chain 3-ketoacyl-CoA thiolase (MCKAT) deficiency

-Dienoyl-CoA reductase deficiency

-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 and 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

-Glutamate formiminotransferase deficiency (formiminoglutamic aciduria)​

Reference Range Information
 < or =7 days (nmol/mL)8 days-7 years (nmol/mL)> or =8 years (nmol/mL)
Acetylcarnitine, C22.14-15.892.00-27.572.00-17.83
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<0.03

 

Interpretation
​An interpretive report is provided. The individual quantitative results support the interpretation of the acylcarnitine profile but are not diagnostic by themselves. The interpretation is based on pattern recognition.
 
Abnormal results are typically not sufficient to conclusively establish a diagnosis of a particular disease. To verify a preliminary diagnosis based on an acylcarnitine analysis, independent biochemical or molecular genetic analyses are required.
 
For information on the follow-up of specific acylcarnitine elevations, see Special Instructions for the following algorithms:
-Newborn Screening Follow-up for Elevations of C8, C6, and C10 Acylcarnitines (also applies to any plasma or serum C8, C6, and C10 acylcarnitine elevations)
-Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma or serum C4 acylcarnitine elevation)
-Newborn Screening Follow-up for Isolated C5 Acylcarnitine Elevations (also applies to any plasma or serum C5 acylcarnitine elevation)
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​82017
Synonyms/Keywords
2-Methylbutyryl-CoA Dehydrogenase Deficiency
3-Methylcrotonyl Carboxylase Deficiency
Biotinidase (Multiple Carboxylase) Deficiency
CPT-II (Carnitine Palmitoyl Transferase Deficiency Type II)
Electron-Transfer Flavoprotein (ETF) Deficiency
Glutaric Acidemia (GA)
Glutaric Acidemia Type I (GA I)
Glutaric Acidemia Type II (GA II)
Glutaryl-CoA Dehydrogenase (GCDH) Deficiency
Isobutyryl-CoA Dehdrogenase (IBDH) Deficiency
Isovaleric Acidemia (IVA)
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency
MADD (Multiple Acyl-CoA Dehydrogenase Deficiency)
Malonic aciduria
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Methylmalonic Acidemia
Methylmalonic Aciduria (MMA)
Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
S/MCHAD (Short/Medium-Chain 3-Hydroxyacyl-CoA Dehydrogenase) Deficiency
SCAD (Short-Chain Acyl-CoA Dehydrogenase) Deficiency
Short/Medium-Chain 3-Hydroxyacyl-CoA Dehydrogenase (S/MCHAD) Deficiency
Trifunctional Protein (TFP) Deficiency
Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
2-Methyl-3-hydroxybutyryl CoA Dehydrogenase Deficiency
3-Hydroxy-3-Methylglutaryl-CoA (HMG-CoA) Lyase Deficiency
3-Methylglutaconyl-CoA Hydratase Deficiency
Beta-ketothiolase Deficiency
Carnitine-acylcarnitine Translocase (CACT) Deficiency
Formiminoglutamic Aciduria (FIGLU)
Formiminotransferase (FIGLU) Deficiency
Holocarboxylase Synthetase Deficiency
Succinyl-CoA Ligase (SUCLA2) Deficiency
SUCLA2 (Succinyl-CoA Ligase) Deficiency
3-Methylglutaconic Aciduria Type I
3-Methylglutaconic Aciduria Type 1
Propionic Acidemia (PA)
Ordering Applications
Ordering Application Description
​Centricity ​Acylcarnitines, Qnt, Plasma (ACRN)
​Cerner ​None
​COM ​Acylcarnitines, Qnt, Plasma
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
Plasma​ Sodium-heparin Green Top Tube (GTT)​ EDTA Lavender Top Tube (LTT) or lithium heparin​ 0.1 mL​ 0.04 mL​
Collection Processing

​Submit sample in a plastic vial.

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.
Specimen Stability Information
Specimen Type Temperature Time
​ ​ ​Plasma​ ​ ​ Frozen (preferred)​ 92 days​
Refrigerated ​ 64 days​
Ambient ​ 8 days​
Interference

​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.

Useful For
​Diagnosis of fatty acid beta-oxidation disorders and several organic acidurias
 
Evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias
Reference Range Information
 < or =7 days (nmol/mL)8 days-7 years (nmol/mL)> or =8 years (nmol/mL)
Acetylcarnitine, C22.14-15.892.00-27.572.00-17.83
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<0.03

 

Interpretation
​An interpretive report is provided. The individual quantitative results support the interpretation of the acylcarnitine profile but are not diagnostic by themselves. The interpretation is based on pattern recognition.
 
Abnormal results are typically not sufficient to conclusively establish a diagnosis of a particular disease. To verify a preliminary diagnosis based on an acylcarnitine analysis, independent biochemical or molecular genetic analyses are required.
 
For information on the follow-up of specific acylcarnitine elevations, see Special Instructions for the following algorithms:
-Newborn Screening Follow-up for Elevations of C8, C6, and C10 Acylcarnitines (also applies to any plasma or serum C8, C6, and C10 acylcarnitine elevations)
-Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma or serum C4 acylcarnitine elevation)
-Newborn Screening Follow-up for Isolated C5 Acylcarnitine Elevations (also applies to any plasma or serum C5 acylcarnitine elevation)
For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
Mayo Clinic Laboratories
Monday, Wednesday, Thursday, Friday​
2 days​
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)​
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​82017
For most current information refer to the Marshfield Laboratory online reference manual.