MSUD-MAPLE SYRUP URINE DISORDER NEONATAL SCREEN
MRP - ₹ 4,500
What is a MSUD-MAPLE SYRUP URINE DISORDER NEONATAL SCREEN?
MSUD – Maple Syrup Urine Disorder Neonatal Screen is a newborn screening test used to detect abnormal metabolism of branched-chain amino acids, particularly leucine, isoleucine, and valine. MSUD is a rare inherited metabolic disorder that can cause serious neurological complications if untreated. Early screening is needed to identify affected newborns promptly, allowing timely dietary management and treatment to help prevent potentially severe complications.
Additional Information
| Also known as/ Other names: | Maple Syrup Urine Disease (MSUD) Neonata, Screening, MSUD Newborn Screening Test, Maple Syrup Urine Disorder – Newborn Screen, MSUD Metabolic Disorder Neonatal Screen, Newborn Screening for Maple Syrup Urine Disease |
| Parameters: | 1 |
| Recommended for: | M/F/Others |
| Sample Type: | Blood |
| Patient Preparation: | No prior preparation is needed |
| Reports: | 5 Days |
FAQs
Early detection allows affected babies to receive appropriate dietary management and medical care before serious complications develop.
The disorder gets its name from the characteristic sweet, maple-syrup-like odor that can occur in the urine and other body fluids of affected individuals.
Yes. MSUD is an inherited genetic disorder. It usually follows an autosomal recessive inheritance pattern, meaning a baby inherits disease-causing gene variants from both parents.
MSUD primarily affects the metabolism of leucine, isoleucine, and valine. These are known as branched-chain amino acids and are normally obtained from dietary proteins.
A positive or abnormal screening result means the baby may be at increased risk of MSUD. It does not by itself confirm the diagnosis, and additional testing is required.
A negative result means the screening did not identify findings suggestive of MSUD at the time of testing. However, no screening test can detect every affected baby.
