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Copyright 1986, 1990, 1994, 1999, 2000, 2002, 2007
Synonyms of Maple Syrup Urine Disease
- BCKD Deficiency
- Branched Chain Alpha-Ketoacid Dehydrogenase Deficiency
- Branched Chain Ketonuria I
- Classical Maple Syrup Urine Disease
- MSUD
Disorder Subdivisions
- Classic Maple Syrup Urine Disease
- Intermediate Maple Syrup Urine Disease
- Intermittent Maple Syrup Urine Disease
- Thiamine-Responsive Maple Syrup Urine Disease
General Discussion
Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of certain enzymes (branched-chain alpha-keto acid dehydrogenase complex) required to breakdown (metabolize) specific amino acids in the body. Because these amino acids are not metabolized, they, along with their various byproducts, abnormally accumulate in the cells and fluids of the body. Such accumulation can cause a variety of symptoms including lethargy, irritability, poor feeding, abnormal movements and a characteristic odor of maple syrup in the earwax (cerumen), sweat and urine of affected individuals. In addition, if untreated various neurological complications including seizures, coma and brain damage may occur. Failure to promptly detect and treat MSUD can lead to life-threatening complications. However, the disorder can be successfully managed through a specialized diet. Even with treatment affected individuals remain at risk for developing episodes of acute illness (metabolic crisis) often triggered by infection, injury, failure to eat (fasting) or psychological stress. During these episodes there is a rapid, sudden spike in amino acid levels necessitating immediate medical intervention.
At least four subtypes of MSUD have been identified in the medical literature. Some researchers include a fifth subtype, although other researchers consider this a separate distinct disorder. The various subtypes of MSUD have different levels of residual enzyme activity, different severity, and different ages of onset. All forms are inherited as autosomal recessive traits.
Organizations related to Maple Syrup Urine Disease
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- Belgian Association for Metabolic Diseases (BOKS)
Alice Nahonlann 7
Melsele None 9120
Phone #: 323-775-4839
800 #: N/A
e-mail: info@boks.be
Home page: http://www.boks.be
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Cook for Love, Inc.
30 Seneca Street
Dobbs Ferry NY 10522
Phone #: 914-674-1025
800 #: N/A
e-mail: info@cookforlove.org
Home page: http://www.cookforlove.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- Maple Syrup Urine Disease Family Support Group
82 Ravine Road
Powell OH 43065
Phone #: 740-548-4475
800 #: --
e-mail: dbulcher@aol.com
Home page: http://www.msud-support.org/
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: 800-891-5389
e-mail: nddic@info.niddk.nih.gov
Home page: http://www.niddk.nih.gov
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