Maple Syrup Urine Disease

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Maple Syrup Urine Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • BCKD Deficiency
  • Branched Chain Alpha-Ketoacid Dehydrogenase Deficiency
  • Branched Chain Ketonuria I
  • Classical Maple Syrup Urine Disease
  • MSUD

Disorder Subdivisions

  • Intermittent Maple Syrup Urine Disease
  • Intermediate Maple Syrup Urine Disease
  • Thiamine-Responsive Maple Syrup Urine Disease
  • Classic 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.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)907-8906
Tel: (800)891-5389
Email: nddic@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

Maple Syrup Urine Disease Family Support Group
82 Ravine Road
Powell, OH 43065
United States
Tel: (740)548-4475
Email: dbulcher@aol.com
Internet: http://www.msud-support.org/

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Belgian Association for Metabolic Diseases (BOKS)
Alice Nahonlann 7
Melsele, 9120
Belgium
Tel: 3237754839
Email: info@boks.be
Internet: http://www.boks.be

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Cook for Love, Inc.
30 Seneca Street
Dobbs Ferry, NY 10522
Tel: (914)674-1025
Email: info@cookforlove.org
Internet: http://www.cookforlove.org

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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