Maple syrup urine disease (MSUD) is caused by a gene defect. People with this condition cannot break down the amino acids leucine, isoleucine, and valine. Known as the BCAAs (branched-chain amino acids). This leads to a buildup of these chemicals in the blood. This causes the babies urine to smell like maple syrup and get a really dark color.
Example of what MSUD looks like
Maple syrup urine disease shows up shortly after birth. The infants will start to get maple syrup smell in the urine. Symptoms include poor feeding, lethargy, irritability, and vomiting. If left untreated for so long the results are severe brain damage, coma, and death at infancy.
lifelong therapy to maintain acceptable amino acid levels in the body and immediate medical intervention for metabolic crises. Individuals with MSUD must remain on a protein-restrictive diet that limits the amount of BCAA they take in. Protein-restriction must start as soon as possible after birth to promote proper growth and development. Artificially-made formulas are available that provide all the nutrients necessary for treatment. It is mostly all about their diet though.
The formula made for MSUD