Maple Syrup Urine Disease

Maple Syrup Urine Disease (MSUD) is a genetically passed down metabolic disorder. Maple Syrup Urine Disease is the inability to metabolize certain parts of proteins, giving the urine a sickly sweet smell that is somewhat like the smell of maple syrup.

The inability to metabolize proteins can cause loss of appetite which results in general weakness and other nutrient insufficiencies. Maple Syrup Urine Disease patients sometimes experience seizures and general fever-like symptoms like vomiting and nausea. Severe MSUD can damage the brain through severe physical stress from infections, fever, or very poor diet.

The Maple Syrup Urine Disease comes and goes in episodes. Typical treatment involves eating a low-protein or protein-free diets. During severe episodes, necessary nutrients are supplied to the blood through an IV. Dialysis or hemodialysis can also be used to control various chemicals in the urinary tract.

Patients are typically prescribed a diet free of branched-chain amino acids depending on the levels of amino acid which are closely monitored. Most Maple Syrup Urine Disease patients are kept on a permanent diet that helps control amino acid levels and is low in protein. Patients are consistently tested for blood levels of various chemicals in order to proactively monitor imbalances and prevent damage.

The common tests for Maple Syrup Urine Disease (MSUD) patients are the Plasma amino acid test and the Urine amino acid test. More testing is usually done after signs of ketosis and excess acid in blood (acidosis). Children are tested for MSUD if their parents are known to have the disorder. Parents must be proactive about telling the doctor that their children are at risk of inheriting the disease.

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