Maple syrup urine disease
Definition
Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins. Urine in persons with this condition smells like maple syrup.
Alternative Names
MSUDCauses
Maple syrup urine disease (MSUD) is caused by a gene defect. Persons with this condition cannot break down the branched-chain amino acids leucine, isoleucine, and valine. This leads to a build-up of these chemicals in the blood.
In the most severe form, MSUD can damage the brain during times of physical stress (such as infection, fever, or not eating for a long time).
MSUD also occurs in an intermittent form and a mild form. Even in the mildest form, infections can cause mental retardation and high levels of leucine.
A.D.A.M., Inc. is accredited by
URAC, also known as the American
Accreditation HealthCare Commission. URAC's accreditation program is
the first of its kind, requiring compliance with 53 standards of quality and
accountability, verified by independent audit.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2005 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.