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Carnitine Metabolite Profile (Isovalerylcarnitine and Butyrylcarnitine in CSF)

Published: August 9, 2026Updated: August 16, 2026

This test measures specific organic acids attached to carnitine in your cerebrospinal fluid (CSF). These metabolites help assess metabolic health, especially in conditions affecting how your body breaks down fats.

Quick summary

["Helps diagnose metabolic disorders linked to fat metabolism in the brain and nervous system."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
54305-8
Short code
Isovaleryl+MeButyrylcarn CSF-sCnc
Synonyms
Isovaleryl+MeButyrylcarn CSF-sCnc
Category
chemistry
Sample
csf
Container
Sterile tube
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Specimen volume
1-2 mL
Stability
Immediate analysis required, Refrigerated: 1h
Hemolysis max
200
TAT
4–24 hours
Order
routine

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you have symptoms like developmental delays, seizures, movement disorders, or neurological issues. It’s often used in newborn screening or when evaluating suspected metabolic disorders in children or adults.

What to Expect Before the Test

No special preparation is needed. A healthcare professional will collect a small sample of your CSF, usually through a spinal tap (lumbar puncture). This is a brief procedure with mild discomfort.

What the Results Mean

Elevated levels of isovalerylcarnitine or butyrylcarnitine in CSF may indicate a genetic disorder affecting fat metabolism, such as medium-chain acyl-CoA dehydrogenase (MCAD) deficiency or other carnitine-related conditions. Results are interpreted by a specialist.

Common Conditions Linked to Abnormal Results

Abnormal findings could suggest inherited metabolic disorders, mitochondrial diseases, or other conditions impairing how your body processes fats. These conditions may affect brain function, energy production, or nerve health.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance: How Results Guide Care

Short name

Carnitine Metabolites in CSF

Frequently asked questions

What does it mean if my test results are abnormal?
Abnormal results may require further testing, including genetic evaluation, to identify the underlying cause. Your doctor will work with specialists to develop a treatment plan, which may include dietary changes, medications, or monitoring.
Can this test detect all metabolic disorders?
No, this test focuses on specific carnitine metabolites in CSF. Some metabolic disorders may require additional tests, such as blood tests or genetic testing, for a complete diagnosis.
How often will I need this test?
Frequency depends on your symptoms and diagnosis. If you have a known metabolic disorder, your doctor may schedule follow-up tests regularly to monitor progression or treatment effectiveness.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy