What is a disease of the urine of maple syrup?

Maple syrup urine (MSUD) is a genetic disorder that prevents the correct processing of amino acids in the body. Amino acids are considered to be building blocks of proteins and are essential for vital functions. This disease can kill a newborn within a few months, not if properly treated with a lifelong restrictive diet. In consistent treatment, the child will live a long and relatively healthy life. MSUD is also called ketoaciduria with a branched chain because it is a complex alpha-ketoacid dehydrogenase (BCKDH) with a branch chain that is missing in Suffis bodies. This is what causes the accumulation of amino acids with a branch chain and their toxic by -products in blood and urine.

This is a inherited disorder and is therefore present at birth. It is also a recessive disorder, which means that the disease may be present in the child's make -up gene without the presence of the disease. Recessive genes must be present in both parents genetic make -up to be handed over. This makes it quite rare. IsPossible that both parents do not have this disease, yet they still pass the property to their child. The only way to prevent MSUD is through genetic counseling before the child's concept.

MSUD is a very rare disorder, usually diagnosed in childhood. The disease is characterized by poor feed and excessive twist, as well as the smell in the urine of infants. Those who have illness are also atypically lethargic and experience developmental delays. Victims can also experience seizures, coma and neurological damage, as the disease proceeds, especially if the required diet is not properly followed.

Some states require all newborns to be tested for urine disease with maple syrup at birth. In other IS testing states, specific symptoms are not observed. Simple testing can be performed using a blood test. The amount of amino acids in a blood sample is measured toIt was determined whether further genetic testing is required. Genetic testing is much more thorough by mapping the baby's bottom to see if it carries two recessive genes.

The main treatment of maple syrup urine is a diet. The child's diet should contain limited leucine, isoleucine and valin because they are amino acids in the branch chain that the child will not be able to process. Yet the diet must be nutritionally balanced. Proteins are essential for growth, development and general good health. Those suffering from urine disease with maple syrup must use protein supplements to maintain a healthy lifestyle and often consult with diet.