They will also still pass one mutated copy of the gene on to each of their biological children. As a major surgery the transplant procedure itself also carries standard risks, although the odds of its success are greatly elevated when the only indication for it is an inborn error of metabolism. In absence of a liver transplant, the MSUD diet must be adhered to strictly and permanently. However, in both treatment scenarios, with proper management, those affected are able to live healthy, normal lives without experiencing the severe neurological damage associated with the disease. Pregnancy
Control of metabolism is vital during pregnancy of women with MSUD. To prevent detrimental abnormalities in development of the embryo or fetus, dietary adjustments should be made and plasma amino acid concentrations of the mother should be observed carefully and frequently. Amino acid deficiency can be detected through fetal growth, making it essential to monitor development closely. Prognosis
If left untreated, MSUD will lead to death due to central neurological function failure and respiratory failure. Early detection, diet low in branched-chain amino acids, and close monitoring of blood chemistry can lead to a good prognosis with little or no abnormal developments. Average intellectual development is below that of the general population and the severity of the deficit is a related to the time the condition remained undiagnosed and the effectiveness of dietary control including during metabolic crises. Epidemiology
Maple syrup urine disease (MSUD) is a rare, inherited metabolic disorder.
"Fountains syndrome: mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips". J Med Genet. 26 (11): 722–724. doi:10.1136/jmg.26.11.722. PMC 1015742. PMID 2585470. Fryns JP, Dereymaeker A, Hoefnagels M, Van den Berghe H (1987). "Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome". Am J Med Genet. 26 (3): 551–555. doi:10.1002/ajmg.1320260307. PMID 3565469. Dunkle Mary (1996). "Fountain Syndrome". NORD. Retrieved 26 April 2012. "Fountain syndrome". Ailments.com. 2000. Retrieved 29 April 2012. "Childrens Health:Fountain syndrome". WebMD. 2011. Retrieved 30 April 2012. External links

Online Mendelian Inheritance in Man (OMIM): 229120