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Maple syrup urine disease
Other Names for this Disease
- BCKD deficiency
- Branched chain ketoaciduria
- Branched-chain alpha-keto acid dehydrogenase deficiency
- Keto acid decarboxylase deficiency
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Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and developmental delay. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. Maple syrup urine disease can be life-threatening if untreated.
Last updated: 5/10/2012
- Maple syrup urine disease. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=maplesyrupurinedisease. Accessed 5/10/2012.
- Genetics Home Reference (GHR) contains information on Maple syrup urine disease. This website is maintained by the National Library of Medicine.
- The Maple Syrup Urine Disease Family Support group has a list of low protein products on their Web site that is intended as a general reference and resource for parents and others involved with the care of persons with maple syrup urine disease (MSUD).
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Save Babies Through Screening Foundation's website has an information page on Maple Syrup Urine Disease (MSUD). Click on Save Babies Through Screening Foundation to view this information page.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.
In Depth Information
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Maple syrup urine disease. Click on the link to view a sample search on this topic.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.