maple syrup urine disease symptoms in newborn

This abnormality occurs with far greater frequency in the Old Order Mennonite population. One of these is maple syrup urine disease, a rare disorder that impacts only about 1 in 185,000 children. The Clinic Services Search Engine offered by the American College of Medical Genetics and Genomics (ACMG) and the Find a Genetic Counselor tool on the National Society of Genetic Counselors (NSGC) website are two good resources for you or your baby's health care provider to use to identify local specialists.Britain’s National Screening Committee has recommended screening every newborn infant for four additional disorders. Speak with your baby’s doctor about getting a referral. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for MSUD, and understand what this diagnosis means for other family members and future pregnancies. If you think that your baby is not meeting his or her developmental milestones, ask your baby's health care provider about the next steps in accessing a developmental evaluation and care.īecause MSUD is a genetic condition, you may want to talk with a genetics specialist. Some children with maple syrup urine disease (MSUD) have developmental delays. Your baby’s doctor may help you coordinate care with a physician who specializes in metabolism, a dietician who can help plan your child’s specialized diet, and other medical resources in your community. Work with your baby’s doctor to determine the next steps for your baby’s care. Learn more about autosomal recessive inheritance. While having a child with MSUD is rare, when both parents are carriers, they can have more than one child with the condition. The parents of a child with an autosomal recessive condition each carry one copy of the non-working gene, but they typically do not show signs and symptoms of the condition. This means that a child must inherit two copies of the non-working gene for MSUD, one from each parent, in order to have the condition.

MSUD is an autosomal recessive genetic condition. High levels of these amino acids in the blood can be toxic. The amino acids then build up in the blood. When BCKAD is not working, your baby’s body cannot break down the branched chain amino acids. This causes the BCKAD group not to work correctly. If your baby has MSUD, then his or her body is lacking one or more of the enzymes in the BCKAD complex. These three amino acids all share a similar branched shape. You may hear these called the branched-chain amino acids. In maple syrup urine disease (MSUD), the group of enzymes called branched-chain ketoacid dehydrogenase (BCKAD) complex is not working correctly.īCKAD is a group of four enzymes that work together to break down the amino acids leucine, isoleucine, and valine for energy. Other enzymes break down the amino acids. Some enzymes break down proteins into their building blocks, called amino acids. When we eat food, enzymes help break it down. High amounts of branch-chained amino acids in the blood and ketones in the urine might indicate that your baby has MSUD. Certain acids and toxins build up in the body when a child has an amino acid condition, so measuring the amounts of these substances in your baby’s body can help doctors determine if your baby has a condition. Because the harmful effects of untreated MSUD can occur soon after birth, follow-up testing must be completed as soon as possible to determine whether or not your baby has the condition.įollow-up testing will involve checking your baby’s urine and blood samples for harmful amounts of acids and toxins. However, as a few babies do have the condition, it is very important that you go to your follow-up appointment for a confirmatory test. An out-of-range result may occur because the initial blood sample was too small or the test was performed too early. It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition. If your baby’s newborn screening result for maple syrup urine disease (MSUD) was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your baby to have additional testing. If your baby has certain signs, your baby’s doctor may suggest starting immediate treatment.

Your baby’s doctor may ask you if your baby is showing any of the signs of MSUD (see Early Signs, below).

Maple syrup urine disease symptoms in newborn