Maple Syrup Urine Disease (MSUD)
is a genetic disorder caused by a deficiency in alpha-ketoacid dehydrogenase, an enzyme needed to break down branch chain amino acids.Patients are prescribed a protein restricted diet to prevent elevated levels of Leu, Ile and Val, and thus preventing brain damage.
This App is designed to support families and children with MSUD on protein restricted diets.
What is MSUD?
Maple Syrup Urine Disease (MSUD) is a genetic disorder caused by a deficiency in alpha-ketoacid dehydrogenase, an enzyme needed to break down branch chain amino acids. Read more on MSUD in Gene Reviews.
These amino acids include: Leucine (Leu), Isoleucine (Ile), Allo-isoleucine, and Valine (Val)
Leu, Ile, allo-isoleucine and Val are important amino acids that make up protein in foods. Protein is important for growth in children and health maintenance in adults.
The name of the disease came about as high levels of these amino acids in the urine produce a smell similar to that of maple syrup.
Decreased alpha-ketoacid dehydrogenase enzyme activity results in toxic levels of Leu, Ile, allo-isoleucine and Val, as well as their associated metabolites.
If left untreated, patients are left with dangerously high levels of Leu, Ile, and Val, which causes degeneration of brain cells and seizures.
Why a diet?
Patients are prescribed a protein restricted diet to prevent elevated levels of Leu, Ile and Val, and thus preventing brain damage.
People living with MSUD are prescribed their daily protein restriction by their physician or dietitian. Patients also frequently restrict their Leu, Ile and Val intake. Each person’s daily goals change and need ongoing adjustment based on each person’s nutritional needs.
Since nutrition labels on foods do not list Leu, Ile and Val contents of foods, it is very difficult to track daily dietary these three amino acids intakes.
We hope this App makes daily protein and amino acid counting and meal planning easier for people following low protein diets.
For whom?
This App is designed to support families and children with MSUD on protein restricted diets.
This App is not a substitute for the health care provided by your medical team!