When untreated or poorly controlled, all of them cause mental retardation, and some even death. There is a great need to improve the quality of treatment for children and others affected by these diseases. Although each of these inherited metabolic diseases is unique, there are similarities that link them. Each requires a very difficult and very restrictive diet. Usually, an expensive synthetic formula is also required.
Dietary treatment is for life.
Given adequate funding, there are many research projects that could greatly improve the quality of life for affected persons. The Scott C. Foster Metabolic Research Fund will help support such projects. Scott Foster was the first child with MSUD to be identified through the newborn screening program in Massachusetts. Early symptoms of MSUD are poor feeding, irritability and a characteristic odor similar to that of maple syrup. Without early diagnosis and treatment, symptoms usually progress into seizures, coma, and death, by two weeks of age.