How to Diagnose MSUD

Maple syrup urine disease, also known as branched chain ketoaciduria, is characterized by sweet-smelling urine with a scent akin to maple syrup. MSUD is a serious metabolic disorder and must be treated through the use of a strictly followed special diet that will help them avoid the disease's severe neurological consequences.

Instructions

• 1

  Understand that infants born with MSUD seem perfectly healthy at birth and through their first few weeks. Symptoms of the disease do not begin to show until irreversible neurological damage has already taken place.

• 2

  Diagnose whether or not your baby has MSUD by subjecting her to screening shortly after birth, ideally within 24 hours. In some U.S. states, this testing is now mandatory. However, parents should be aware that some rarer variant forms of the disease have proved elusive to the methods normally used to diagnose the presence of MSUD. In such cases, the presence of the disease may not become known until symptoms manifest.

• 3

  Know that the primary symptom of MSUD is through the odor of the infant's urine. It has a distinct and strong smell, akin to maple syrup or burned caramel. Ask your doctor to diagnose the source of the problem if you notice your infant has abnormal-smelling urine.

• 4

  Learn to recognize the other symptoms of MSUD not related to the odor of the infant's urine. Affected babies have a significantly reduced appetite and are unusually irritable. Soon, their sucking reflex disappears and the child goes limp, interspersed with episodes of rigid body reflex. Seizures, coma and death will follow unless immediate medical intervention occurs.

• 5

  Realize that the disease's rarer, variant forms are very difficult to detect. Generally, though, variant forms of MSUD first manifest through the distinctive scent of the urine as well as an overall failure of the baby to thrive as normal.

• 6

  Understand that genetic testing in order to identify carriers of the gene that causes MSUD in children is still extremely limited. In the United States, it is currently limited to the Mennonite populations of eastern Pennsylvania, who are at high risk for the disorder.

• 7

  Know that MSUD is treated virtually exclusively through the implementation of a very strict diet limiting protein intake. Regular medical care is also necessary to monitor potential complications.