It was an extremely difficult time for us.”ĭoctors phoned their colleagues at Evelina London Children's Hospital for advice before Harini was rushed to the hospital by its intensive care ambulance service.ĭoctors struggled to figure out why Harini was so ill as she rapidly deteriorated (Image: Evelina London Children's Hospital)ĭr Helen Mundy, a specialist at the hospital, diagnosed Harini with maple syrup urine disease after smelling her earwax and recognising the sweet smell as a sign of the condition.Īn analysis of the earwax and a blood test confirmed the diagnosis.
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“She looked like a little chicken, full of wires and tubes. The doctors and nurses were very concerned but at that stage no one knew what was wrong. She said: “Once there Harini’s condition rapidly deteriorated.
Harini’s mother, Preminy, 30, took her to the local hospital after a check in with the community midwife revealed she had lost large amounts of weight. Her life was saved by a quick-thinking specialist who smelled her earwax and diagnosed her with a serious inherited condition. Harini Rasalingam, from March, Cambridgeshire, is now a thriving two-year-old but she started rapidly losing weight soon after birth. What Else Should I Know?īecause MSUD is a genetic condition, you may want to speak to a genetic counselor about testing other family members and to learn how MUSD runs in families.A Cambridgeshire family lived every new parent's worst nightmare when their seven-day-old daughter became mysteriously ill with a rare disease that stumped doctors. These are triggered by stress, such as:Ĭall your doctor right away if your child is sick, has a fever, is not eating well, or is very sleepy, or if you notice balance problems, trouble walking, or changes in behavior. Some people with MSUD may have episodes of metabolic crisis. Doctors will closely watch kids who have it. Maple syrup urine disease is treatable when found early. Working with the health care team, including a dietitian who specializes in metabolic disorders like MSUD, can help keep these levels in an acceptable range.ĭoctors may recommend a liver transplant for some children with severe MSUD. Your doctor will do regular checks of the amino acid levels in your child's blood. Following this diet will help prevent the problems linked to MSUD. Some also need to take nutritional supplements. Then, they’ll follow the special diet for the rest of their lives. Babies with MSUD must be on a special formula as soon as possible. The main treatment for MSUD is a low-protein diet with low levels of the three amino acids. How Is Maple Syrup Urine Disease Treated? The doctor may recommend genetic testing if a baby is born into a family with a history of MSUD. If doctors suspect MSUD, they will check the amino acid levels in the blood and other acids in the urine. In the U.S., doctors do a blood test to check babies for MSUD as part of newborn screening.Ĭhildren with milder forms of MSUD may not be diagnosed until they are older and start to show symptoms. How Is Maple Syrup Urine Disease Diagnosed? In the U.S., MSUD is seen most often in some Mennonite communities. Parents who have one changed gene do not have any symptoms, but can pass the gene to their children. To have MSUD, a child must inherit two changed MSUD genes, one from each parent. MSUD happens when there’s a change (mutation) in the genes that make the enzymes that break down these three amino acids, which are found in food.
These amino acids and their byproducts then build up in the blood, damaging the brain and other organs. In MSUD, three amino acids - leucine, isoleucine, and valine - are not broken down.
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