MSUD

Maple Syrup Urine Disease (MSUD)
An Amino Acid Disorder

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What is it?
Maple Syrup Urine Disease (MSUD) is a disorder abnormally affecting the metabolism of amino acids. This disease is treated and managed very similarly to the care of patients with PKU.

The disorder affects the way the body metabolizes certain components of protein. These components are the three branch-chain amino-acids leucine, isoleucine, and valine. These amino acids accumulate in the blood causing a toxic effect that interferes with brain function.

Inheritance and Frequency
The gene defect for MSUD is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene usually emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect.

Studies conducted since 1979 (Georgia) show that MSUD affects approximately 1 in every 120,000 live births. The frequency of MSUD is about 1 in 760 among Mennonites. MSUD was first described as a disease in 1954. It is believed to be in all ethnic groups worldwide.

Signs & Symptoms
This disease presents very dramatic signs in the newborn period such as poor feeding, lethargy, convulsions, and even death, occurring within the first few days of life.

Long Term Effects
Dietary restrictions must be maintained through the lifetime of an affected individual.

Treatment
Treatment requires dietary restriction of branched-chain amino acids, a special medical formula (drink similar to milk) and intensive dietary monitoring.

History
The disease derives its name from the sweet, burnt sugar or maple syrup smell of the urine.

Screening
Visit the What Does Your State Screen page to learn about your state's newborn screening program.

Supplemental Screening
If you live in a state that does not perform screening on its newborns for all detectable disorders, there are laboratories that will provide this screening for you no matter the state of your residence. For more information about supplemental screening, visit our supplemental screening page. Also visit our frequently asked questions page for more information on newborn screening.

Other Sites of Reference

Support Groups

MSUD Family Support Group
24806 SR119,
Goshen, IN. 46526
Phone: (219) 862-2992
Fax: (219) 862-2012
Contact Person: Joyce Brubacher
E-mail: MSUD Support

National Coalition for PKU & Allied Disorders
P.O. Box 1244
Mansfield, MA 02048
Contact Person: Trish Mullaley
Phone: (877) 996-2723
E-mail: National Coalition

MUMS - National Parent-to-Parent Network

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Revised 01/07/2007