Genetic condition awaiting consideration - Maple Syrup Urine Disease (MSUD)
Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in an autosomal recessive fashion, in which the body cannot break down certain parts of proteins. Urine in persons with this condition can smell like maple syrup.
MSUD is caused by a gene defect. Persons with this condition cannot break down the amino acids leucine, isoleucine, and valine. In the most severe form, MSUD can damage the brain during times of physical stress (such as infection, fever, or not eating for a long time) and will be fatal if untreated. Although some types of MSUD are mild, repeated periods of physical stress can cause mental retardation and high levels of leucine.
When the condition is diagnosed, and during episodes, treatment involves eating a protein-free diet. Fluids, sugars and possibly fats are given intravenously. Peritoneal dialysis or hemodialysis can be used to reduce the level of amino acids. A special diet free of branched-chain amino acids is started when amino acid levels are normal and must be medically monitored closely throughout life.
Have your say on conditions awaiting consideration
If you have any feedback on the genetic conditions awaiting consideration by the HFEA, send us an email and we will discuss your comments at the next Licence Committee.
Email: pgd@hfea.gov.uk
Page last updated: 10 January 2013