Maple syrup urine disease
Causes
What gene change causes maple syrup urine disease?
There are three genes that are known to cause maple syrup urine disease: BCKDHA, BCKDHB, and DBT. These genes make-up a protein complex that breaks down three amino acids: leucine, isoleucine, and valine. Each gene is responsible for making a particular part of the complex. BCKDHA accounts for 45%, BCKDHB 35% and DBT 20% of maple syrup urine disease cases.
References
- Maple syrup urine disease. (2013, December). Retrieved February 5, 2016, from Genetics Home Reference: GHR
- Maple Syrup Urine Disease. (2013, May 9). Retrieved February 5, 2016, from GeneReviews
- http://www.ncbi.nlm.nih.gov/books/NBK1319/
More Causes Content
Why is maple syrup urine disease caused by [i]BCKDHA[/i] gene change?
Can anything make maple syrup urine disease worse?
Why is maple syrup urine disease caused by [i]BCKDHA[/i] gene change?
A mutation in any of the three genes causes problems with the function of the protein complex. The complex is unable to appropriately break down leucine, isoleucine, and valine. Mutations in BCKDHA have been associated with a more severe disease presentation. Mutations in BCKDHB and DBT are linked with milder presentations.
References
- Maple Syrup Urine Disease. (2013, May 9). Retrieved February 5, 2016, from GeneReviews: NCBI
- Maple Syrup Urine Disease; MSUD. (2013, March 26). Retrieved February 5, 2016, from Online Mendelian Inheritance in Man
- http://www.omim.org/entry/248600
Can anything make maple syrup urine disease worse?
The consumption of foods that contain leucine, isoleucine, and valine will significantly worsen maple syrup urine disease. Individuals with maple syrup urine disease maintain a very strict diet to avoid these amino acids.
References
- Maple Syrup Urine Disease. (2013, May 9). Retrieved February 5, 2016, from GeneReviews: NCBI
- Maple Syrup Urine Disease; MSUD. (2013, March 26). Retrieved February 5, 2016, from Online Mendelian Inheritance in Man
- http://www.omim.org/entry/248600
