![]() controversial as parents of children with MSUD are obligate. What is Maple Syrup UrineDisease Maple syrup urine disease (MSUD) is an inherited, genetic disorder caused by a defect in three enzymes that help break down protein from food. specialized metabolic formula and a diet restricted in leucine throughout their lifetime. ![]() An experienced healthcare professional should be consulted for the management of maple syrup urine disease. In patients with MSUD, this test will detect high levels of the amino. Hurrying off at a moment’s notice isn’t always convenient, but Phillips, who is not Mennonite, feels a personal calling to do it. SHEET This fact sheet is for educational purposes only. This involves testing a small blood sample collected from pricking of the babys heel. Without it, the baby would suffer brain damage within days from its inability to break down amino acids in protein-rich foods, including breast milk and standard infant formula. If found to be positive for the condition, the baby can receive a needed special formula. MSUD is caused by genetic variants in the BCKDHA, BCKDHB, or DBT genes. The symptoms of other forms of MSUD start in adolescence or adulthood. The earwax and urine of infants with MSUD smells like maple syrup. Phillips drives there to meet a contact for a very special delivery: a packet of cheek swabs and blood samples from a newborn Mennonite baby at risk of a life-threatening genetic condition called maple syrup urine disease (MSUD).įor more than two decades, Phillips, an NIH grantee at the University of Missouri, Columbia, has volunteered to ensure that the DNA in these swabs and samples is tested for MSUD within hours of a baby’s birth. Symptoms of the classic form of MSUD start in early infancy and include poor feeding, irritability, extra sleepiness, and muscle spasms. But Charlotte Phillips sometimes finds herself up at that odd hour, waiting anxiously in a deserted Missouri parking lot far from her home. Caption: Charlotte Phillips during a visit to a Missouri Mennonite community.Īt 1 a.m., most people are fast asleep in their beds. Updated: 17:37 EDT, A woman who suffers from the rare maple syrup urine disease says that the formula shortage striking much of the nation may kill her.
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