Carnitine Biosynthesis Pattern in Cerebrospinal Fluid (CSF)
This test measures how carnitine, a fat-metabolizing compound, is produced and processed in your spinal fluid. It helps assess metabolic disorders that may affect how your body uses fats and energy.
["This test can help diagnose or monitor conditions linked to abnormal fat metabolism in the nervous system."]
Key facts at a glance
- LOINC
- 79340-6
- Short code
- CARNCBI
- Synonyms
- Carnitine biosynthesis pattern CSF-Imp
- Category
- chemistry
- Sample
- csf
- Container
- Sterile polypropylene CSF collection tube
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 0–99 years
- Method
- Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
- CPT
- 82017
- SNOMED
- 395137001
- Specimen volume
- 1-2 mL of cerebrospinal fluid
- Stability
- Refrigerated (2-8°C) for up to 7 days; frozen (-20°C or below) for up to 30 days; avoid repeated freeze-thaw cycles.
- Hemolysis max
- 200
- TAT
- 72–336 hours
- Order
- routine
Why This Test Might Be Ordered
Your healthcare provider may recommend this test if you have symptoms like muscle weakness, developmental delays, or neurological issues that could be linked to carnitine metabolism problems. It’s also used in research or specialized care for rare genetic disorders affecting fat metabolism.
What to Expect Before the Test
No special preparation is needed. The test involves a simple lumbar puncture (spinal tap) to collect cerebrospinal fluid. You may feel mild pressure or discomfort, but it’s usually brief. Tell your doctor about any medications or health conditions that could affect results.
What the Results Mean
The pattern of carnitine levels in your CSF helps identify whether your body is producing or processing carnitine correctly. Abnormal patterns may suggest metabolic disorders like mitochondrial disorders, organic acidemias, or other conditions affecting fat metabolism.
Common Conditions Monitored
This test is particularly useful for diagnosing or managing conditions like carnitine palmitoyltransferase (CPT) deficiency, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, or other inherited disorders that disrupt fat metabolism in the nervous system.
Reference range
Reference ranges vary by individual metabolite intermediate; interpretation provided as narrative report comparing patient values to age-matched controls.N/A
No special patient preparation required. Specimen should be collected prior to initiation of carnitine supplementation therapy when possible.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Clinical Significance
Short name
CSF Carnitine Metabolic Profile
Frequently asked questions
What does a positive or abnormal result mean?
How often will I need this test?
Will this test affect my daily activities?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
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.
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