DIAGNOSIS
According to the National Newborn Screening and Genetics Resource Center (NNSGRC), every state in the US screens infants for maple syrup urine disease as part of their newborn screening program, a blood test that screens for more than 30 disorders.
It is crucial to detect MSUD before birth to prevent long-term harm. Additional testing may be recommended to confirm the findings and avoid the onset of symptoms in cases where both parents are carriers, and their child’s MSUD test is negative.
TREATMENT
If your child is diagnosed with maple syrup urine disease, seek medical help as soon as possible to avoid significant medical issues and intellectual disabilities. The first step in treatment is to lower the amount of BCAAs in your baby’s blood.
This usually entails intravenous (IV) delivery of amino acids that don’t contain BCAAs and glucose to provide additional calories. The treatment will encourage the body’s current leucine, isoleucine, and valine to be used more effectively. At the same time, it will lower BCAA levels while providing essential protein.
In collaboration with a metabolic specialist and a dietitian, your physician will develop a long-term treatment plan for your kid with maple syrup urine disease. The treatment plan aims to give your child all of the protein and nutrients they need for optimal growth and development. The strategy will also prevent too many BCAAS from accumulating in their blood.