Maple Syrup Urine Disease (MSUD)
- Introduction
- What is maple syrup urine disease (MSUD) and what causes it?
- What are the symptoms of MSUD?
- How it is diagnosed?
- What is the prognosis?
- What is the risk for other family members or future babies?
- What treatments/therapies/medications are recommended or available?
- How will my child and our family be impacted?
- If MSUD is a genetic disease, then why is no one else in my family or extended family affected?
- Why does the urine smell like maple syrup?
- Can I breast-feed my baby with MSUD?
- Will my female child with MSUD be able to have children?
- Resources
Introduction
What is maple syrup urine disease (MSUD) and what causes it?
What are the symptoms of MSUD?
How it is diagnosed?
What is the prognosis?
What is the risk for other family members or future babies?
What treatments/therapies/medications are recommended or available?
How will my child and our family be impacted?
If MSUD is a genetic disease, then why is no one else in my family or extended family affected?
Why does the urine smell like maple syrup?
Can I breast-feed my baby with MSUD?
Will my female child with MSUD be able to have children?
Resources
Information & Support
For Parents and Patients
Support
Maple Syrup Urine Disease Family Support Group
A non-profit organization that provides information, newsletters and articles, family stories, support services, recipes and
formulas, and dietary resources.
General
Maple Syrup Urine Disease - Information for Parents (STAR-G)
A fact sheet, written by a genetic counselor and reviewed by metabolic and genetic specialists, for families who have received
an initial diagnosis of a newborn disorder; Screening, Technology and Research in Genetics.
Maple Syrup Urine Disease (MedlinePlus)
Excellent, detailed review of condition for patients and families; National Library of Medicine and National Institutes of
Health.
Genetics in Primary Care Institute (AAP)
Contains health supervision guidelines and other useful resources for the care of children with genetic disorders; American
Academy of Pediatrics.
Maple Syrup Urine Disease (MSUD) (NECMP)
Guideline for clinicians treating the sick infant/child who has previously been diagnosed with maple syrup urine disease (MSDU);
developed under the direction of Dr. Harvey Levy, Senior Associate in Medicine/Genetics at Children’s Hospital Boston, and
Professor of Pediatrics at Harvard Medical School, for the New England Consortium of Metabolic Programs. Click PDF to view
the complete protocol.
Emergency Information Form (EIF) for Individuals with Special Health Care Needs ( 61 KB)
A blank Emergency Information Form PDF to download, print, and use in the event of an emergency. Includes diagnoses and procedures;
medications; allergies; and immunizations; American College of Emergency Physicians and American Academy of Pediatricians.
Services for Patients & Families in Montana (MT)
Service Categories | # of providers* in: | MT | NW | Other states (5) (show) | | ID | NM | NV | RI | UT |
---|---|---|---|---|---|---|---|---|---|---|
Developmental - Behavioral Pediatrics | 8 | 1 | 2 | 2 | 3 | 11 | 8 | |||
Early Childhood Education/Preschool | 22 | 10 | 232 | 31 | 7 | 76 | ||||
Early Intervention for Children with Disabilities/Delays | 28 | 2 | 148 | 156 | 30 | 14 | 55 | |||
Nutrition, Metabolic | 17 | 16 | 16 | 16 | 17 | 18 | 17 | |||
Pediatric Metabolics | 1 | 1 | 1 | 2 | 2 | |||||
Pediatric Physical Medicine & Rehabilitation | 5 | 1 | 1 | 4 | 1 | 3 | 13 | |||
Psychiatry/Medication Management | 18 | 20 | 14 | 41 | 79 | 64 |
For services not listed above, browse our Services categories or search our database.
* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.