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Maple Syrup Urine Disease Screening — Dried Blood Spot

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

A newborn screening test that measures disease-related amino acids in a dried blood spot to check for possible maple syrup urine disease.

Quick summary

["This screening test looks for amino acid changes that may suggest maple syrup urine disease."]

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

Key facts at a glance

LOINC
46743-1
Short code
MSUD DBS-Imp
Synonyms
MSUD DBS-Imp
Category
urine
Sample
serum
Container
Red-top tube (SST)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Specimen volume
5 mL
Stability
Room temperature: 4h, Refrigerated: 24h, Frozen: 7d
Hemolysis max
500
Lipemia max
1000
Icterus max
500
TAT
4–24 hours
Order
routine

What is this test?

This test measures certain amino acids in a dried blood spot collected during newborn screening. It is designed to detect possible maple syrup urine disease, also called MSUD, before symptoms develop.

Why might I need this test?

MSUD screening is routinely offered to newborns because early detection can help prevent serious metabolic complications. The test may also be used when a healthcare professional is evaluating an infant with poor feeding, vomiting, unusual sleepiness, or developmental concerns.

How is the test performed?

A few drops of blood, usually from a heel stick, are placed on a filter-paper card and allowed to dry. The card is then sent to a laboratory for analysis.

How do I prepare for the test?

No special preparation is usually required for newborn screening. Follow the screening program’s collection instructions, and do not delay feeding or prescribed care unless your healthcare professional advises otherwise.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

MSUD newborn screening

Frequently asked questions

What is maple syrup urine disease?
Maple syrup urine disease is an inherited metabolic disorder in which the body cannot properly break down three amino acids: leucine, isoleucine, and valine. Without treatment, it can cause serious illness.
Does an abnormal screening result mean my child has MSUD?
No. A screening result only indicates that further testing may be needed. Confirmatory laboratory tests are required to determine whether MSUD is present.
What should happen if the result is abnormal?
The healthcare team should review the result and arrange prompt confirmatory testing. If the child has symptoms such as poor feeding, vomiting, unusual sleepiness, or breathing problems, seek urgent medical care.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

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