Skip to content

Cerebrospinal Fluid (CSF) Analysis by Lumbar Puncture

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

A specialized test that measures 2-Methyl-3-Hydroxybutyrylcarnitine levels in cerebrospinal fluid to help diagnose certain metabolic disorders affecting the nervous system.

Quick summary

{"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"}

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

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

Specimen: csf

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?
While similar tests can be done on blood, measuring C5-OH in cerebrospinal fluid provides specific information about metabolic processes occurring in the central nervous system. This is particularly important when neurological symptoms are present, as it helps doctors understand if the metabolic disorder is affecting the brain and spinal cord.
How long does it take to get results?
Results typically take several days to a week, as this is a specialized test performed in reference laboratories with specific expertise in metabolic disorders. The sample often needs to be sent to a specialized metabolic center for analysis.
What happens if my results are abnormal?
An abnormal result does not necessarily mean you have a serious condition. Your doctor will discuss the results with you and may recommend additional tests to confirm a diagnosis. If a metabolic disorder is confirmed, you will be referred to a specialist who can recommend appropriate management and treatment strategies.
Is this test only for children?
No, this test can be performed on patients of any age. While some metabolic disorders are diagnosed in infancy or childhood, milder forms may not be identified until adulthood when symptoms first appear.
Do I need to follow a special diet before the test?
Your doctor will provide specific instructions. In some cases, you may be asked to fast overnight before the test, as eating can temporarily affect certain metabolite levels. Follow your doctor's instructions carefully to ensure accurate results.
  1. 1
  2. 2
  3. 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.

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