MSUD (Maple Syrup Urine Disease) is a hereditary disorder that mostly occurs in new born babies. In this disease the baby is unable to use parts of protein found in food and milk. The urine of the baby or person affected by this disorder has the smell of maple syrup so the name of this disease is MSUD (Maple Syrup Urine Disease). If the disease is not treated properly with a lifelong restrictive diet, it can kill newborn babies within months. It occurs in about 1 in 235,000 Michigan newborns.
Causes of MSUD:
MSUD is a genetic disorder that is caused by the gene defect. Those parents who carry a genetic trait causing MSUD, their child has a 1 in 4 chance for this disease MSUD. In this disease, the person can not break down the branched-chain amino acids leucine, isoleucine, and valine that lead in to increase of this chemical in the blood. MSUD can cause mental retardation during times of physical stress such as infection, fever, or not eating for a long time in the most severe form.
Symptoms of Maple Syrup Urine Disease
- Avoiding food
- Feeding difficulties
- Increasing lethargy
- Poor weight gain
- Neurological damage
- Difficulties with waking the infant up
- Urine that smells like maple syrup
- Changes in muscle tone, muscle spasms, and seizures
Maple Syrup Urine Disease Diet:
Treatment of the Maple Syrup Urine Disease entails the utilization of foods that are free of proteins means a diet restricting protein should be continued through life. The long-term treatment of MSUD requires a special diet that includes man-made infant formula containing low-levels of amino acids such as isoleucine, leucine, and valine. Persons with this condition must remain on this diet lastingly. It is vital to follow this diet always to prevent neurological damage. This requires close supervision and repeated blood tests by a registered dietitian and physician, as well as support by the parents.
Fluids, sugars, and possibly fats are given through a vein (Intra venous administration). Peritoneal dialysis or hemodialysis can be used to reduce the level of amino acids in the affected person. When amino acid levels are normal, a special diet free of branched-chain amino acids is started. If the disease is not treated, it may be life-threatening. Even if people with this disorder follow dietary treatment, sometimes situations are stressful, or illness, may still cause high levels of certain amino acids in them. This may lead to the death of an individual. Children with MSUD have grown into healthy adulthood by following strict dietary treatment.