Maple syrup urine disease
Overview
What is maple syrup urine disease?
Maple syrup urine disease, MSUD, is an inherited metabolic disorder. It is named after the hallmark maple syrup odor of the urine that is caused by an accumulation of amino acids. The other features of MSUD are lethargy, poor feeding, muscle spasms, mental retardation, and developmental delay. MSUD has several sub-types that vary by severity and presentation. Treatment for MSUD is through dietary restriction of branched-chain amino acids and with treatment affected individuals may remain healthy and live through adulthood. Untreated MSUD will lead to seizures, coma and eventually death.
References
- Maple Syrup Urine Disease. (2013, May 9). Retrieved February 5, 2016, from GeneReviews
- http://www.ncbi.nlm.nih.gov/books/NBK1319/
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Are there other names for maple syrup urine disease?
How common is maple syrup urine disease?
What is the usual abbreviation for maple syrup urine disease?
Are there other names for maple syrup urine disease?
Maple syrup urine disease can also be called BCKD deficiency, branched chain alpha-ketoacid dehydrogenase deficiency, MSD, or MSUD.
References
- Maple Syrup Urine Disease. (2013, May 9). Retrieved February 5, 2016, from GeneReviews
- [link url=
How common is maple syrup urine disease?
Maple syrup urine disease is estimated to occur in 1 out of every 185,000 live births in most populations. Within certain Mennonite populations it is much more common, seen in 1 out of 380 live births.
References
- Maple Syrup Urine Disease. (2013, May 9). Retrieved February 5, 2016, from GeneReviews: [link url=
What is the usual abbreviation for maple syrup urine disease?
Maple syrup urine disease is usually abbreviated as MSUD.
References
- Maple Syrup Urine Disease. (2013, May 9). Retrieved February 5, 2016, from GeneReviews: GHR
