Maple syrup urine disease type 1A
Other Names for this Disease
- MSUD type 1A
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These Web pages are updated as the Genetic and Rare Diseases Information Center receives questions and as new information becomes available. If you don’t see many information resources on this page, it may be because the Information Center hasn’t yet received a question about this condition.
- Genetics Home Reference (GHR) contains information on Maple syrup urine disease type 1A. 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).
- 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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- The New England Consortium of Metabolic Program has written medical guidelines called acute care protocols for Maple syrup urine disease type 1A for health care professionals.
- Online Mendelian Inheritance in Man (OMIM) is a 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Maple syrup urine disease type 1A. Click on the link to view a sample search on this topic.