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Home Page > Diseases by Region: Ashkenazi > Maple Syrup Urine Disease (MSUD)

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 

SUGGESTED READING

Jewish Genetic Disorders: A Layman's Guide: Guide to genetic disorders affecting  the Jewish population more than the non-Jewish. Includes basic facts on genetics & genetic disorders.
     ------------
Books: Jewish Genetic Diseases

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