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Acylcarnitine Profile

Insight into fatty acid metabolism and mitochondrial energy production

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A window into energy metabolism

Acylcarnitines are key metabolites involved in fatty acid metabolism. Analyzing acylcarnitine profiles can provide valuable insight into fatty acid oxidation disorders and organic acidurias, with specific patterns helping to support accurate diagnosis.

A subset of individuals with autism spectrum disorder (ASD) may have underlying metabolic abnormalities, including:

  • • Mitochondrial dysfunction
  • • Fatty acid oxidation abnormalities
  • • Carnitine deficiency or impaired carnitine metabolism
  • • Certain inborn errors of metabolism that can present with autism-like features

Acylcarnitine analysis can help identify these metabolic disturbances by detecting abnormal patterns associated with impaired energy production or fatty acid metabolism.

Why acylcarnitines matter

The body relies on efficient mitochondrial energy production to support normal growth, neurological function, muscle activity, and overall health. When specific metabolic pathways become impaired, characteristic acylcarnitine elevations or deficiencies may occur, offering insight into how the body is generating and using energy. Abnormal acylcarnitine profiles have been associated with:

Fatty Acid Oxidation Disorders Mitochondrial Dysfunction Carnitine Deficiency Organic Acidurias Amino Acid Metabolism Disorders Metabolic Stress Energy Production Impairment

Acylcarnitines & autism: key figures

A subset of individuals with autism spectrum disorder (ASD) demonstrates measurable abnormalities in energy metabolism, including mitochondrial dysfunction, impaired fatty acid oxidation (FAO), and disruptions in carnitine-related pathways.

Metabolic abnormalityEvidence in ASD
Mitochondrial dysfunction Decreased electron transport chain (ETC) complex activity in frontal, temporal, and cerebellar brain tissue; abnormal mitochondrial bioenergetics reported in 17–76% of ASD patients.1,2
Fatty acid oxidation defects Elevated short-chain and long-chain acylcarnitines (not medium-chain); impaired β-oxidation indicated by increased long-chain fatty acids in serum.3,4,5
Carnitine metabolism abnormalities Low free L-carnitine reported in 90% of ASD children; altered acylcarnitine profiles found in 17% of ASD individuals consistently across repeated testing.3,4
Energy hypometabolism Consistent patterns of reduced ATP, elevated lactate/pyruvate ratio, and impaired NAD♠/NADH ratio in blood and brain.3,6
90%

of ASD children showed low free L-carnitine

Mol. Psychiatry (2012)
17%

of ASD individuals showed consistently abnormal profiles for at least 3 acylcarnitine species

Transl. Psychiatry (2013)

Potential benefits

Identification of metabolic pathway dysfunction Detection of markers associated with fatty acid oxidation disorders Evaluation of mitochondrial energy metabolism Support for personalized treatment planning Guidance for further metabolic investigations Monitoring of metabolic status over time

Who may benefit?

This assessment may be worth considering for individuals experiencing:

Significant fatigue or low energy Developmental regression Unexplained metabolic abnormalities Hypotonia or motor difficulties Gastrointestinal symptoms Poor exercise tolerance Complex or unexplained neurological symptoms Persistent symptoms despite conventional interventions

What is tested?

The Acylcarnitine Profile evaluates a broad range of short-, medium-, and long-chain acylcarnitines involved in:

Molecular illustration representing fatty acid oxidation pathwaysFatty Acid Oxidation Pathways
Fluorescent microscopy image representing mitochondrial energy productionMitochondrial Energy Production
Ball-and-stick chemical structure diagram representing organic acid metabolismOrganic Acid Metabolism
Benzene-ring chemical structure diagram representing amino acid metabolismAmino Acid Metabolism
Molecular model representing carnitine statusCarnitine Status
DNA double helix illustration representing inborn errors of metabolismInborn Errors of Metabolism

Resources

Demo Report

A minimum of 3 mL whole blood collected in a sodium heparin tube is required. Alternatively, blood can be centrifuged and a minimum of 1 mL plasma sent for analysis. Contact us for detailed instructions.

Results are typically available approximately 15–30 days from the date your sample reaches the lab.

International shipping is available for this test. Contact our team for guidance specific to your country.

1. Rossignol, D.A.; Frye, R.E. Mitochondrial dysfunction in autism spectrum disorders: A systematic review and meta-analysis. Mol. Psychiatry 2012, 17, 290–314.
Additional sources: PMC6132446, PMC5137782, Nature (tp2012143), Wiley (aur.3029), PubMed 40232643

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The Acylcarnitine Profile is not intended to diagnose autism spectrum disorder or any other neurodevelopmental condition. Results should always be interpreted alongside clinical history, symptoms, physical examination, laboratory findings, and healthcare professional evaluation.

Not sure if this test is right for you?

Our team can help you decide whether the Acylcarnitine Profile fits your clinical picture.

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