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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
- MSUD
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Overview
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.[1]
References
- Maple syrup urine disease. Genetic Home Reference. http://ghr.nlm.nih.gov/condition=maplesyrupurinedisease. Accessed May 10, 2012.
Your Questions Answered
by the Genetic and Rare Diseases Information Center2 question(s) from the public on Maple syrup urine disease have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Maple syrup urine disease. Click on the link to go to GHR and review the information.
- 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, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this 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 National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- 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. To view this fact sheet, click on the link.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Maple syrup urine disease. Click on the link to go to OMIM and review these resources.
Insurance Issues
- 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.