Maple Syrup Urine Disease
National Organization for Rare Disorders, Inc.
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.
- BCKD Deficiency
- Branched Chain Alpha-Ketoacid Dehydrogenase Deficiency
- Branched Chain Ketonuria I
- Classical Maple Syrup Urine Disease
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.
Belgian Association for Metabolic Diseases
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CLIMB (Children Living with Inherited Metabolic Diseases)
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- United Kingdom
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Cook for Love, Inc.
- 30 Seneca Street
- Dobbs Ferry, NY 10522
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Genetic and Rare Diseases (GARD) Information Center
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MSUD Family Support
- 9517 Big Bear Ave
- Powell, OH 43065
- United States
- Tel: (614)389-2739
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- Website: http://www.msud-support.org/
March of Dimes Birth Defects Foundation
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- White Plains, NY 10605
- Tel: (914)997-4488
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- Website: http://www.marchofdimes.com
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
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Last Updated: 1/4/1970
Copyright 2007 National Organization for Rare Disorders, Inc.
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