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Maple Syrup Urine
Disease (MSUD)
by Yael Rosenberg, RN
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. Most common mutation
among individuals of Jewish Ashkenazi descent is a specific mutation
of the BCKDHB gene located on chromosome #6.
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 MSUD Type 1b: 1 in 26,000 Ashkenazi Jews
MSUD: 1 in 185,000 Worldwide
MSUD Type 1a: among certain Mennonite population in Pennsylvania,
Kentucky, New York, Indiana, Wisconsin, Michigan, Iowa, and Missouri
1 in 380
Carrier frequency: Type 1b among the Ashkenazi Jewish population is
approx. 1 in 81
Type 1a among certain Mennonite population in Pennsylvania,
Kentucky, New York, Indiana, Wisconsin, Michigan, Iowa, and Missouri
is approximately 1 in 10
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
• Tandem Mass Spectometry (M/S/M/S) is a laboratory
testing technology utilized for screening newborns for metabolic
disorders by detecting the blood levels of organic acids that are
affected by these diseases. It is highly recommended that infants be
evaluated for metabolic/genetic disorders as soon as they are
suspected of having the disorder so treatment can be instituted
immediately.
• Blood test measures levels of amino acids in blood
• Urine test measures levels of amino acids in urine
Laboratories and Screening
The following laboratories offer genetic testing for Maple Syrup
Urine Disease (Type 1b):
• United States
• Israel
• Canada
• Europe
UNITED STATES
ARUP Laboratories
500 Chipeta Way
Salt Lake City, UT 84108-1221
Phone: (800) 522-2787
Fax: (800) 522-2706
Email:
clientservices@aruplab.com
***Analyte testing only
Baylor Medical Genetic Laboratories
Medical Genetics Laboratories
Baylor College of Medicine
One Baylor Plaza, NAB 2015
Houston, TX 77030
Phone: (800) 411-GENE (4363)
Fax: (713) 798-2787
Email: genetictest@bcm.edu
Client Services Manager
Alejandra Quick
Phone: (713) 798-7656
Fax: (713) 798-2787
Email: ahquick@bcm.edu
***Analyte testing only
Boston University School of Medicine- Human Genetics
700 Albany Street
Suite 408
Boston, MA 02118-2394
Phone: (617) 638-7083
Fax: (617) 638-7092
Center for Genetic Testing at Saint Francis
6161 S. Yale Avenue
Tulsa, OK 74136
Toll Free: (866) 846-0315
Phone: (918) 502-1720 (Main Office)
Fax: (918) 502-1723
Email:
fvschaefer@saintfrancis.com
***Analyte testing only
Dayton Children’s Medical Center
Molecular and Biochemical Genetics Laboratory
One Children's Plaza
Dayton , OH 45404
Toll-free: (800) 228-4055
Phone: (937) 641-3000
Contact: Leslie A Willis, BS, MB (ASCP)
Phone: (937) 641-3262
Fax: (937) 641-5872
***Analyte testing only
Denver Genetic Laboratories
UCD DNA Diagnostic Laboratory
12800 East 19th Avenue
Mail Stop 8313
Aurora, CO 80045
Phone: (303) 724-3801 (Main laboratory)
Fax: (303) 724-3802 (HIPAA-secure fax #)
***Analyte testing only
Emory University School of Medicine
Emory Molecular Genetics Laboratory
Atlanta, GA
Phone: (404) 778-8500
Fax: (404) 778-8559
Email: eglgc@emory.edu
***Analyte testing and Enzyme Assay
Genzyme Genetics
Molecular Diagnostic Laboratory
3400 Computer Drive
Westborough, MA 01581
Phone: (508) 898-9001
Fax: (508) 389-5549
Toll Free: (800) 255-7357
Genzyme Genetics General Inquiries:
Phone: (800) 357-5744
Fax: (508) 389-5549
Client Services - Reproductive Genetics
Toll Free: (800) 848-4436
Greenwood Genetic Center
106 Gregor Mendel Circle
Greenwood, SC 29646
Phone: (800) 473-9411
Fax: (864) 941-8141
***Analyte testing only
LabCorp (Type 1A, 1B)
1912 Alexander Drive
Research Triangle Park, NC 27709
Phone: (800) 345-4363
Fax: (919) 361-7798
Email: genetics@labcorp.com
Mayo Medical Laboratories
3050 Superior Drive NW
Rochester, MN 55901
Phone: (800) 533-1710
Phone: (507) 266-5700
Fax: (507) 284-4542
NYU Langone Medical Center
Human Genetics Program
550 First Avenue, Room MSB 136
New York, NY 10016
Phone: (212) 263-5746
Fax: (212) 263-7590
***Type 1B only
PerkinElmer Genetics
90 Emerson Lane
Bridgeville, PA 15017
Toll Free: (866) 463-6436
Phone: (412) 220-2300
Fax: 412-220-0784
Quest Diagnostics-Nichols Institute
Molecular Genetics Laboratory
Medical Director, Charles Strom, MD, PhD
33608 Ortega Highway
San Juan Capistrano, CA 92690
Contact: Joy Redman, MS, Genetic Counselor
Phone: (949) 728-4279
Fax: (949) 728-4874
Robert Guthrie Biochemical & Molecular Genetics Laboratory
Room A-762
100 High Street
Buffalo, NY 14203
Phone: (716) 859-7741
Fax: (716) 859-7749
Email: info@rgbmgl.org
***Analyte testing only
Victor Center for Jewish Genetic Diseases at
University of Miami Miller School of Medicine
Address: Clinical Research Building
1120 NW 14th Street - 8th Floor
Miami, FL 33136
Phone: (305) 243-4524
Deborah Zimbalist Wasserman, M.S.
Genetic Counselor/Coordinator
Cellular: (786) 897-9587
Email:
DWasserman@med.miami.edu
Victor Outreach and Screening Program for Ashkenazi Jewish Genetic
Diseases
Floating Hospital for Children at Tufts Medical Center
800 Washington Street, Box 340
Boston, MA 02111
Phone: (617) 636-7721
Web:
www.tuftsnemc.org/OurServices/SpecialServicesandCenters/JewishGeneticDiseasesScreening
The Victor Center for Jewish Genetic Diseases
Albert Einstein Medical Center
5501 Old York Road, Levy 2 West
Philadelphia, PA 19141
Phone: (215) 456-8722
Laboratories offering supplemental newborn screening (these may not
be included in state-required metabolic disease screening)
Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic
Disease
Baylor Research Institute at Dallas
3812 Elm Street
Dallas, Texas 75226
Phone: (214) 820-4533 (Main Office)
Fax: (214) 820-4853
Mayo Medical Laboratories
3050 Superior Drive NW
Rochester, MN 55901
Phone: (800) 533-1710
Phone: (507) 266-5700
Fax: (507) 284-4542
ISRAEL
Carmel Medical Center
Molecular Genetics Laboratory
Michal Street, Haifa 34362
Phone: (+972) 4-8250407
GGA –Galil Genetic Analysis Ltd
P.O.B. 3664
Kazerin, Hatzafon, Israel 12900
Phone: (+972) 4-900-7100
Fax: (+972) 4-900-7111
Email: gga@gga.org.il
Ha’Emek Medical Center
Molecular Genetics Unit
Afula 18101 , Israel
Phone: (+972) 4-649-5416
Email:
morad_kh@clalit.org.il
Kaplan medical center, Molecular Genetics Laboratory
REHOVOT , ISRAEL
Phone: (+972) 8-944-1534
Web:
http://www.clalit.org.il/kaplan
Meuhedet Rosh Haayin
Molecular Genetics Laboratory.
Hey Beiyar 22 Rosh Haayin 48056 Israel
Phone: (+972)-3-915-5330
Fax: (+972)-3-915-5331
Website:
https://www.meuhedet.co.il
Pronto Diagnostic Ltd.
19A Habarzel Street
Ramat Hachayal
Tel Aviv, Israel 69710
Phone: (+972) 73-312-6155
Fax: (+972) 73-212-6144
Email:
info@prontodiagnostics.com
Rabin Medical Center
Molecular Genetics
Petah Tikva, Israel
Director: Mordechai Shohat, MD
Genetic Counselor: Inbal Kedar, MSc
Phone: (+972) 3-937-7659
Fax: (+972) 3-937-7660
Email: inbalkd@clalit.org.il
Rambam Medical Center, Molecular Genetics Laboratory
PO Box 9602 Haifa 31096 Israel
Phone: (+972) 4-854-2456
Prof. Ruth Gershoni -Baruch
Email:
rgershoni@rambam.health.gov.il
Sheba Medical Center
The Danek Gertner Institute Human Genetics
Molecular diagnosis Laboratory
Tel Hashomer; Ramat Gan . 52621, Israel
Phone: (+972)3-530-3060
Web: http://www.eng.sheba.co.il
Tel Aviv Sourasky Medical Center
Genetic Lab
Sourasky Builidng, 1st Floor, Wing 1
Tel Aviv, Israel
Phone: (+972) 3-697-4704
Phone: (+972) 3-697-3992
Fax: (+972) 3-697-4555
Web: http://www.tasmc.org.il
Western Galilee Hospital-Naharia
Molecular Genetics Laboratory
P.O.Box 21
Naharia 2100 Israel
CANADA
Genetrack Biolabs Inc.
Molecular Genetics Laboratory
Vancouver, British Columbia, Canada
Contact: Kevin Chu
Phone: (604) 325-7282
Fax: (604) 325-2208
Email: kevin@genetrack.bc.ca
EUROPE
• Slovakia
• Spain
SLOVAKIA
Medgene s.r.o.
laboratórium lekárskej genetiky
Bratislava, Slovakia
Phone:: (+421) 2-20737474
Contact: Martina Hikkelova, RNDr
Phone: (+421) 2-20737474
Fax: (+421) 2- 33016065
Email:
genetests@medgene.eu
SPAIN
Universidad Autonoma de Madrid
Centro de Diagnostico de Enfermedades Moleculares
Madrid, Spain
Director: Magdalena Ugarte, PhD
Genetic Counselor: Dr. Lourdes Ruiz Desviat, PhD
Phone: (+34) 911 964 566
Fax: (+34) 914 974 863
Email: lruiz@cbm.uam.es
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
Phone: (740) 548-4475
Email: dbulcher@aol.com
Web:
http://www.msud-support.org
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