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/
