Cerebrospinal Fluid (CSF) Analysis by Lumbar Puncture
A specialized test that measures 2-Methyl-3-Hydroxybutyrylcarnitine levels in cerebrospinal fluid to help diagnose certain metabolic disorders affecting the nervous system.
{"Measures a specific fatty acid metabolism byproduct in spinal fluid","Helps diagnose rare genetic metabolic disorders affecting the brain","Requires a lumbar puncture (spinal tap) to collect the sample","Abnormal results may indicate problems with breaking down certain fats","Results help doctors distinguish between different metabolic conditions"}
Key facts at a glance
- LOINC
- 50088-4
- Short code
- C5-OH CSF
- Synonyms
- 2Me3OH-Butyrcarn CSF-sCnc
- Category
- chemistry
- Sample
- csf
- Container
- Sterile CSF collection tube (polypropylene or glass), typically plain red-top or clear tube. Avoid contamination with blood.
- Units
- N/A
- Ref low
- 0.05
- Ref high
- 0.35
- Critical range
- — – 1 N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- ≥ 0 years
- Method
- Tandem Mass Spectrometry (MS/MS)
- CPT
- 82017 (Acylcarnitine quantitation, each)
- SNOMED
- 371450003
- Specimen volume
- 500-1000 microliters (µL) of CSF preferred; minimum 200 µL for analysis
- Stability
- Store at 2-8°C if analysis within 72 hours. For longer storage, freeze at -20°C or below. Avoid repeated freeze-thaw cycles.
- Hemolysis max
- 200
- TAT
- 48–168 hours
- Order
- routine
Cerebrospinal fluid (CSF) analysis is a laboratory test that examines the clear fluid surrounding your brain and spinal cord, helping doctors diagnose infections, bleeding, inflammation, and other neurological conditions.
The 2-Methyl-3-Hydroxybutyrylcarnitine (C5-OH) test measures the amount of a specific substance called an acylcarnitine in your cerebrospinal fluid (CSF). Acylcarnitines are molecules produced when your body breaks down fatty acids for energy. The C5-OH type is particularly important for diagnosing certain rare genetic metabolic disorders that affect how the body processes fats and certain amino acids.
This test is performed to detect or rule out conditions such as meningitis, encephalitis, multiple sclerosis, subarachnoid hemorrhage, Guillain-Barré syndrome, or certain cancers that affect the central nervous system.
This test is usually ordered when a patient shows symptoms of a metabolic disorder, especially neurological symptoms that cannot be explained by other causes. Symptoms may include developmental delays, muscle weakness, seizures, or unusual fatigue. By measuring C5-OH levels in the CSF (the fluid surrounding your brain and spinal cord), doctors can get information about metabolic processes happening in the nervous system specifically.
The sample is collected during a lumbar puncture (spinal tap), in which a thin needle is inserted into your lower back, usually between two lumbar vertebrae, and a small amount of cerebrospinal fluid is withdrawn into sterile tubes.
The sample is collected through a procedure called a lumbar puncture or spinal tap. During this procedure, you will lie on your side or sit up while a healthcare provider inserts a thin needle between two vertebrae in your lower back to withdraw a small amount of cerebrospinal fluid. The area will be numbed with local anesthetic to minimize discomfort. The procedure typically takes 15-30 minutes.
Before the procedure, tell your doctor about all medications you take, especially blood thinners, and about any allergies, bleeding disorders, or previous back problems. You may be asked to empty your bladder and, in some cases, to have a CT or MRI scan first.
Your doctor will provide specific instructions. You may need to fast (not eat or drink) for several hours before the test. Inform your doctor about any medications you are taking, as some drugs may affect test results. Make sure to discuss any bleeding disorders or medications that affect blood clotting, as these may increase the risk of complications from the lumbar puncture.
Common risks include a post-dural puncture headache, back soreness at the needle site, and less commonly bleeding, infection, nerve irritation, or, rarely, brain herniation in patients with increased pressure inside the skull.
The most common side effect is a headache, which can last for a few days. You may reduce this risk by lying flat for 1-2 hours after the procedure and drinking plenty of fluids. Less common risks include bleeding, infection, or nerve irritation. Serious complications are rare. Contact your doctor if you experience severe headache, fever, stiff neck, or unusual weakness after the procedure.
Reference range
Reference range: 0.05-0.35 micromoles per liter (µmol/L). Values may vary by laboratory methodology and reference population.N/A
No specific fasting required. CSF collection via lumbar puncture performed by trained physician. Inform patient of procedure risks including post-lumbar puncture headache. Maintain standard sterile technique during collection.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Elevated levels of C5-OH in cerebrospinal fluid may indicate 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD), a rare inherited metabolic disorder. This condition affects the body's ability to properly break down certain amino acids and fatty acids, leading to a buildup of toxic substances. The disease can cause neurological symptoms including developmental regression, movement disorders, and seizures. Early diagnosis is important for managing the condition through dietary modifications and avoiding fasting.
Abnormal C5-OH levels may also be seen in other metabolic disorders affecting fatty acid oxidation or branched-chain amino acid metabolism. Your doctor will interpret your results in conjunction with your symptoms, physical examination, and possibly other test results to make an accurate diagnosis. This test is often part of a broader metabolic screening panel that measures multiple acylcarnitine species.
Frequently asked questions
Why is the test done on spinal fluid instead of blood?
How long does it take to get results?
What happens if my results are abnormal?
Is this test only for children?
Do I need to follow a special diet before the test?
Sources
- 1
- 2
- 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