Children from the same father and mother as the affected infant have a 1 in 4 (25%) chance of having the same condition. WHAT ABOUT MY OTHER CHILDREN/FUTURE CHILDREN? A metabolic nutritionist will teach you how to follow the diet and prepare the formula as well as provide assistance in obtaining the formula through your health care provider or state agency.Ħ. Frequent monitoring of blood amino acid levels is required so the diet prescription can be adjusted as needed. A special medical formula and strict low protein diet will be prescribed by your doctor. WHAT IS THE TREATMENT? DOES IT WORK? IS THE DIET DIFFICULT TO DO/EXPENSIVE? It is important to be vigilant and consider every illness seriously.ĥ. Special care must be taken during times of illness as the body will break down its own protein which can raise the level of leucine in the blood to dangerous levels. However, children with MSUD are at risk for intellectual and developmental disabilities. With proper care your child will be able to live a relatively normal and productive life. Blood levels will be monitored and the diet adjusted throughout the lifespan, although most frequently during the early years. If your baby has MSUD, he or she will have to be on a special protein restricted diet, and also take a special formula to ensure that the diet is adequate and balanced. Being a carrier does not affect a person at all. Each of you will have one mutated gene (a carrier). This means that if your baby has MSUD, he/she has two abnormal genes, one from the mother and one from the father. MSUD is an autosomal recessive genetic disorder. The presence of alloisoleucine or genetic testing can also determine whether your baby has MSUD. The newborn screening test will be repeated and additional tests will be undertaken to help determine whether or not your baby has MSUD. If your baby’s newborn screening result showed a higher than normal leucine level, your child may have MSUD. HOW AND WHEN WILL WE KNOW IF MY BABY HAS MSUD? The inability to completely metabolize these amino acids leads to a toxic build up of these and related acids in the body. ![]() ![]() MSUD, also known as Maple Syrup Urine Disease, is an Inborn Error of Metabolism caused by a defect in the enzyme needed to break down a specific group of amino acid called branched chain amino acids.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |