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3oh3meglutarateamnscnc

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

This test measures the level of 3-hydroxy-3-methylglutarate in amniotic fluid to help diagnose a rare metabolic disorder in the unborn baby.

Quick summary

{"The test checks for a metabolic disorder called 3-hydroxy-3-methylglutaric aciduria","It uses a sample of amniotic fluid collected during pregnancy","Early diagnosis helps doctors plan appropriate treatment before birth","Abnormal results indicate the baby may have difficulty processing certain fats"}

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

Key facts at a glance

LOINC
69833-2
Short code
3OH3Me-glutarate Amn-sCnc
Synonyms
3OH3Me-glutarate 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 3-hydroxy-3-methylglutarate test measures the amount of a substance called 3-hydroxy-3-methylglutarate (HMG) in the amniotic fluid that surrounds the baby during pregnancy. This test is part of prenatal metabolic screening and helps determine if the unborn baby has a rare genetic disorder called 3-hydroxy-3-methylglutaric aciduria (HMGuria).

How is the sample collected?

A healthcare provider collects a small sample of amniotic fluid using a procedure called amniocentesis. During amniocentesis, a thin needle is inserted through the abdomen into the uterus to withdraw some fluid. The procedure is usually performed under ultrasound guidance to ensure safety. The fluid is then sent to a laboratory for analysis.

Why is this test important?

3-Hydroxy-3-methylglutaric aciduria is a rare inherited metabolic disorder where the body cannot properly break down certain fats and proteins. This causes harmful substances to build up, which can lead to serious health problems including developmental delays, seizures, and life-threatening metabolic crises. Detecting this condition before birth allows doctors to prepare for immediate treatment after delivery.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Frequently asked questions

Is amniocentesis safe?
Amniocentesis is generally considered safe, though it does carry a small risk of miscarriage (about 1 in 300-500 procedures). The procedure is performed by experienced healthcare providers using ultrasound guidance to minimize risks.
When is this test typically performed?
This test is usually performed between 15-20 weeks of pregnancy if there is a family history of metabolic disorders or if screening tests have shown abnormal results indicating possible metabolic disease.
What happens if the test shows abnormal results?
If elevated 3-hydroxy-3-methylglutarate is detected, genetic counseling and additional testing may be recommended. The healthcare team will discuss treatment options and prepare for specialized care at delivery to manage the condition from the first moments of life.
Can this condition be treated?
Yes, with early diagnosis and proper management including a special low-leucine diet, avoidance of fasting, and prompt treatment during illness, children with HMGuria can lead healthier lives. Treatment is most effective when started as early as possible.
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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