Maple Syrup Urine Disease (MSUD)
Maple syrup urine disease (MSUD) is an inborn inherited metabolic disorder in which the body is unable to process certain protein building blocks properly. The condition gets its name from the distinctive sweet odor of affected infants' urine and is characterized in the neonatal period by poor feeding, vomiting, lethargy, and developmental delay. People with this condition cannot break down the amino acids leucine, isoleucine, and valine, leading to a toxic buildup of these chemicals in the blood.
In the most severe form, MSUD can damage the brain during times of physical stress (such as infection, fever, or absence of food). Some types of MSUD are mild (like in Indie's case) meaning there is a higher protein tolerance. However, even in the mildest form, prolonged periods of sickness or physical stress can cause a toxic build-up of leucine in her blood stream. If untreated, this can lead to seizures, coma, and death.
This is what happened to Indigo over Christmas break 2019 after catching a stomach bug. After several days of sickness, her levels were high enough to admit her into Seattle Children's Hospital for 4 days. Thankfully, she made a rapid recovery, but this will always be part of her reality without a cure.
MSUD affects an estimated:
- 1 in 185,000 infants worldwide
- 3,000 people worldwide
- 12 people in Washington State