A minimum of 3 mL whole blood collected in a sodium heparin tube. Alternatively, blood can be centrifuged and a minimum of 1 mL plasma removed and sent for analysis.Please contact us for detailed instructions.
Acylcarnitine Profile
The Most Comprehensive Genetic Test Available
International Shipping Available
Acylcarnitine Profile
Insight Into Fatty Acid Metabolism
Acylcarnitines are key metabolites involved in fatty acid metabolism. Analysis of acylcarnitine profiles can provide valuable insights 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 Are Acylcarnitines Important?
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. These biochemical patterns can provide valuable insight into how the body is generating and utilizing 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 Abnormality
Evidence In ASD
Mitochondrial dysfunction
Decreased electron transport chain (ETC) complex activity in frontal, temporal, and cerebellar brain tissue; abnormal mitochondrial bioenergetics 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 in 90% of ASD children; altered acylcarnitine profiles 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
17%
of ASD individuals showed consistently abnormal profiles for at least 3 acylcarnitine species
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 considered 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:
Fatty acid oxidation pathways
Mitochondrial energy production
Organic acid metabolism
Amino acid metabolism
Carnitine status
Inborn errors of metabolism
Learn More
Sample Information
TAT
Results should be expected approximately 15 to 30 days from the date the sample reaches our lab partners.
International Availability
International shipping for this test is available. Please consult our team for information regarding your specific country.
Contact Us
References
- https://pmc.ncbi.nlm.nih.gov/articles/PMC6132446/
- https://pmc.ncbi.nlm.nih.gov/articles/PMC5137782/
- https://pdfs.semanticscholar.org/aeda/2f8bb9169033e313a3e71ec2cff9513ab050.pdf
- https://www.nature.com/articles/tp2012143
- https://onlinelibrary.wiley.com/doi/pdf/10.1002/aur.3029
- https://pubmed.ncbi.nlm.nih.gov/40232643/
Rossignol, D.A.; Frye, R.E. Mitochondrial dysfunction in autism spectrum disorders: A systematic review and meta-analysis. Mol. Psychiatry 2012, 17, 290–314.
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.
Founded by Parents.
Supported by Experts.
Trusted by Families Worldwide.
© 2026 NeurAnova. All rights reserved.