Maple syrup urine disease is a rare genetic disorder that prevents the body from processing amino acids properly. It can be fatal if not treated with a lifelong restrictive diet. Symptoms include poor feeding, vomiting, lethargy, and seizures. Treatment involves a limited diet and protein supplements. Genetic counseling can prevent the disease.
Maple syrup urine disease (MSUD) is a genetic disorder that prevents the body from processing amino acids properly. Amino acids are considered the building blocks of protein and are essential for vital functions. This disease can kill newborns within months if not treated properly with a lifelong restrictive diet. With consistent treatment, your child will live a long and relatively healthy life.
Maple syrup urine disease is so named because it is often characterized by a sweet smell similar to maple syrup in the urine of its victims. MSUD is also called branched-chain ketoaciduria, because it is the branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex that is missing from sufferers’ bodies. This is what causes the accumulation of branched-chain amino acids and their toxic by-products in the blood and urine.
This is an inherited disease and therefore is present at birth. It is also a recessive disease, which means that the disease can be present in a child’s genetic makeup without the disease being present. Recessive genes must be present in both parents’ genetic makeup to be passed on. This makes the quite rare. It is possible that both parents do not have the disease but still pass the trait on to their child. The only way to prevent MSUD is through genetic counseling before conceiving a child.
MSUD is a very rare disease, usually diagnosed in childhood. The disease is characterized by poor feeding and excessive vomiting, as well as the telltale odor in the urine of newborns. Those who have the disease are also unusually lethargic and experience developmental delays. Victims can also experience seizures, coma, and neurological damage as the disease progresses, especially if the required diet is not followed properly.
Some states require all newborns to be tested for maple syrup urine disease at birth. In other states, testing is not done unless specific symptoms are observed. Simple tests can be done with a blood test. The amount of branched-chain amino acids in the blood sample is measured to determine if further genetic testing is needed. Genetic testing is much more thorough and can be done by mapping your child’s DNA to determine if she carries two recessive genes.
The main treatment for maple syrup urine disease is through diet. Your child’s diet should contain limited leucine, isoleucine and valine, because these are the branched-chain amino acids that your child will not be able to process. However, the diet must be nutritionally balanced. Protein is needed for growth, development and general good health. Those suffering from maple syrup urine disease should use protein supplements to maintain a healthy lifestyle and often consult dietitians on a regular basis.
Protect your devices with Threat Protection by NordVPN