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2me3ohbutyrcarnamnscnc

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

This test measures a specific metabolite in amniotic fluid to screen for certain inherited metabolic disorders during pregnancy.

Quick summary

{"Screens for metabolic disorders that affect how the body breaks down fats and proteins","Helps detect potential genetic metabolic diseases before birth","Performed on amniotic fluid collected during amniocentesis","Results help doctors plan for special care needed after birth","Abnormal results do not always mean the baby has a disorder"}

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

Key facts at a glance

LOINC
50087-6
Short code
2Me3OH-Butyrcarn Amn-sCnc
Synonyms
2Me3OH-Butyrcarn Amn-sCnc
Category
chemistry
Sample
fluid
Container
Sterile tube
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Specimen volume
2-5 mL
Stability
Room temperature: 2h, Refrigerated: 24h
Hemolysis max
300
TAT
4–24 hours
Order
routine

What is this test?

The C5-OH test measures the level of 2-Methyl-3-Hydroxybutyrylcarnitine in the amniotic fluid that surrounds the unborn baby. This substance is a type of acylcarnitine, which is involved in how the body converts food into energy. Abnormal levels may indicate that the baby has an inherited metabolic disorder, which affects how the body processes certain nutrients.

Why is this test done?

This test is typically done during pregnancy when there is a family history of metabolic disorders, or when initial screening suggests a potential problem. It helps doctors identify certain genetic conditions early, including organic acidemias and fatty acid oxidation disorders. These conditions can cause serious health problems if not managed properly after birth.

How is the test performed?

The test requires a sample of amniotic fluid, which is collected through a procedure called amniocentesis. During amniocentesis, a thin needle is used to remove a small amount of fluid from the amniotic sac surrounding the baby. The fluid is then sent to a laboratory for analysis. While amniocentesis carries a small risk of pregnancy complications, it provides valuable information about the baby's health.

What do the results mean?

Normal levels of C5-OH in amniotic fluid suggest no metabolic disorder is present. Abnormal levels may indicate conditions such as 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC), multiple carboxylase deficiency, or other organic acidemias. If results are abnormal, further testing and genetic counseling are typically recommended to confirm the diagnosis and discuss treatment options.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Frequently asked questions

Is this test part of routine pregnancy screening?
No, this is not a routine test. It is typically ordered when there is a family history of metabolic disorders, when other screening tests show abnormal results, or when a previous child was diagnosed with a metabolic condition. Your doctor will determine if this test is appropriate for your situation.
Does an abnormal result mean my baby will definitely have a disorder?
Not necessarily. Abnormal C5-OH levels can sometimes be caused by other factors. Further diagnostic testing, including genetic testing, is usually needed to confirm whether a metabolic disorder is actually present. Your doctor will discuss follow-up options with you.
What happens if a metabolic disorder is detected?
If a metabolic disorder is confirmed, your healthcare team will work with you to develop a plan for managing the condition after birth. This may include special dietary modifications, medications, and coordination with metabolic disease specialists. Early intervention can help prevent complications and improve your baby's long-term health.
Are there risks to having this test?
The main risk is from the amniocentesis procedure used to collect the fluid sample. There is a small risk of infection, bleeding, or pregnancy loss. Your doctor will discuss these risks with you and help you weigh the benefits of the information this test provides against the potential risks.
Can this test determine the severity of a metabolic disorder?
This test can indicate whether a metabolic disorder is present, but it may not always predict the severity. Additional testing and monitoring after birth are usually needed to determine how the condition will affect the child. Genetic testing can sometimes provide more information about the specific mutation and expected severity.
  1. 1
    Mayo Clinic - Newborn ScreeningSource
  2. 2
    National Institutes of Health - Genetic and Rare Diseases Information CenterSource
  3. 3
    American College of Medical Genetics and GenomicsSource

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