Maple Syrup Urine Disease
by Yael Rosenberg, RN

   •  Description
   •  Symptoms
   •  Incidence and Carriers
   •  Treatment
   •  Testing
   •  Resources and More
   •  Support Group

Description
Maple Syrup Urine Disease (MSUD) is an autosomal recessive genetic disease that involves disorders of metabolism. The disease is caused by defects in a gene that code for certain enzymes. Enzymes are responsible for conversion of one substance into another.  The enzyme that is missing is the one responsible for breaking down certain amino acids which are building blocks of proteins.  The result is a build up of toxic substances in the body after ingesting protein. The name of the disease refers to the characteristic maple syrup smell of the urine.  

Symptoms
Symptoms progress very quickly in the first few days of a newborns life.
   •  Poor feeding
   •  vomiting
   •  lack of energy (lethargy)
   •  seizures
   •  mental retardation
   •  developmental delay

Incidence and Carriers
Disease Frequency: 1 in 27,600 Ashkenazi Jews and 1 in 270,000 in general population in the United States

Carrier frequency among the Ashkenazi Jewish population is approximately 1 in 113

The disease is transmitted through heredity. Both parents have to carry the mutated gene for there to be a possibility of transmission to their child.
If both are carriers:
   •  There is a One in Four chance that the child will inherit the mutated gene from each parent and have the disease
   •  There is a One in Four chance that the child will inherit normal genes from both parents and be completely free of the disease.
   •  There is a Two in Four chance the child will inherit one of a mutated gene from one parent and a normal gene from the other parent, and in this case, be a carrier like the parents, but free of the disease.

Treatment
Treatment for MSUD entails a strict dietary control that must be maintained throughout the lifetime of the affected individual.  The amount of dietary protein taken in must be severely restricted and frequently a specially-formulated supplement is added.  Blood protein levels should be regularly monitored to ensure that the proper balance is maintained.

Testing
Urine Amino Acid Test
Plasma Amio Acid Test
Genetic Testing to detect gene mutation

Resources and More
NYU Medical Center Human Genetics Program 
550 First Avenue, Room MSB 136, 
New York, New York 10016 
Telephone: (212)263-5746 
Fax: (212)263-7590 

The Victor Outreach and Screening Program for Ashkenazi Jewish Genetic Diseases To make an appointment for genetic counseling and screening for these diseases, please call 617 636-7721.  

The Victor Center for Jewish Genetic Diseases 
Albert Einstein Medical Center 
5501 Old York Road, Levy 2 West 
Philadelphia, PA 19141 
(215) 456-8722

University of Miami Miller School of Medicine 
Miami, Florida 
Telephone: 305-243-4524 
Cellular: 786-897-9587 

http://www.jewishgeneticscenter.org/genetic/nsgc  
Genetic Screening Programs – State by state Listing (Each states screens newborns for different genetic diseases) 
 
Support Groups
Rady Children's Hospital 
3020 Children's Way 
MC 5031 
San Diego, CA 92123

For physician referrals and questions regarding genetic counseling: (858) 966-5840 

Maple Syrup Urine Disease Family Support Group 
82 Ravine Road 
Powell, OH 43065 
United States 
Tel: 7405484475 
Email: dbulcher@aol.com 
Internet: http://www.msud-support.org