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2methylacetoacetatecsfscnc

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

A specialized cerebrospinal fluid test that measures levels of 2-methylacetoacetate, a metabolite involved in amino acid metabolism.

Quick summary

{"This test analyzes cerebrospinal fluid (CSF) for 2-methylacetoacetate levels","Abnormal results may indicate metabolic disorders affecting amino acid breakdown","CSF is collected via lumbar puncture (spinal tap)","Results help diagnose rare inherited metabolic conditions","The test is part of specialized metabolic disease screening"}

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

Key facts at a glance

LOINC
69786-2
Short code
2-Methylacetoacetate CSF
Synonyms
2-Methylacetoacetate CSF-sCnc
Category
chemistry
Sample
csf
Container
Sterile CSF collection tube (polypropylene or glass), typically sterile cryovial without additives
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
≥ 0 years
Method
Gas chromatography-mass spectrometry (GC-MS) or liquid chromatography-tandem mass spectrometry (LC-MS/MS)
CPT
80378 (Metabolic disorder panel, urine, organic acids); 82087 (Organic acids, quantitative)
SNOMED
122575004 (Cerebrospinal fluid chemistry test procedure)
Specimen volume
0.5 to 1.0 mL of CSF is typically sufficient; minimum 0.25 mL may be acceptable for some methodologies
Stability
Specimen should be frozen immediately after collection at -20°C for short-term storage (up to 1 week) or -80°C for long-term storage (weeks to months). Avoid repeated freeze-thaw cycles.
Hemolysis max
200
TAT
72–168 hours
Order
routine

What is this test?

The 2-Methylacetoacetate test measures the amount of 2-methylacetoacetate in your cerebrospinal fluid (CSF). CSF is the clear fluid that surrounds your brain and spinal cord. 2-Methylacetoacetate is a substance produced when your body breaks down certain amino acids, particularly isoleucine. This test is part of a group of tests called organic acid analysis, which help doctors evaluate how well your body processes nutrients.

This test requires a sample of cerebrospinal fluid, which is collected through a procedure called a lumbar puncture (also known as a spinal tap). During this procedure, a healthcare provider inserts a thin needle into the lower back to extract CSF from the space around the spinal cord. The sample is then sent to a laboratory for analysis.

Reference range

Reference range not well established; result interpretation requires clinical correlation with suspected metabolic disorder. Contact laboratory for interpretation guidelines.N/A

Specimen: csf

No specific patient preparation required. Standard CSF collection precautions apply. Inform patient of lumbar puncture procedure risks and obtain informed consent.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Frequently asked questions

Why is this test performed?
This test is performed to help diagnose rare metabolic disorders where the body cannot properly break down certain amino acids. It may be ordered when a patient, often a child, shows symptoms like developmental delays, unusual body odor, episodes of vomiting or lethargy, or neurological problems that cannot be explained by other causes.
Is the lumbar puncture procedure painful?
A lumbar puncture is performed with local anesthesia, so you may feel some pressure but minimal pain during the procedure. You may experience a mild headache afterward, which can usually be managed with rest and fluids. The procedure is generally safe and takes only a few minutes.
How long does it take to get results?
Results from this specialized metabolic test typically take several days to a week, as the analysis requires specialized equipment and expertise. Your healthcare provider will contact you with results once they are available.
What do abnormal results mean?
Abnormal results, particularly elevated 2-methylacetoacetate levels, may indicate a metabolic disorder such as beta-ketothiolase deficiency. Your healthcare provider will discuss the results with you and may recommend additional tests or referrals to a specialist in metabolic diseases for further evaluation and management.
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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