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Maple syrup urine disease medicine1/11/2024 ![]() ![]() It is not a substitute for medical advice and should not be used to treatment of any medical conditions. This handout is intended to provide health information so that you can be better informed. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. They can also help you figure out what to tell the doctors once you arrive to the emergency room. The doctor can talk with you if you are concerned about whether to bring your child to the emergency room. You can reach them by calling 61 (pager #26396).Īsk the operator to page the Genetics and Metabolism doctor on call. There is a Genetics and Metabolism doctor available 24/7. Urinalysis, for specific gravity and ketones.CBC differential and WEBC count (if indicated).Signs include lethargy, confusion, ataxia, nausea, headaches and abdominal pain. Check neurological status for increased intracranial pressure or leucine encephalopathy. Page the Genetics and Metabolism MD on call at Massachusetts General Hospital.Have the doctors follow the steps below.īelow are steps to provide acute care to patients with MSUD. Bring your child to the emergency room (ED).Ask the operator to page the Genetics and Metabolism doctor on call Urine that smells sweet or like maple syrup.Unwillingness or inability to eat, even when sick.When a child with a metabolic condition gets sick, there are specific signs to look for that require further evaluation by a doctor, such as: Give it to the doctor so they can care for your child. If you need to go to the emergency room, take this handout with you. Learn a care plan if your child with MSUD gets sick. It causes distinctive sweet-smelling urine. Maple syrup urine disease (MSUD) is genetic condition in which the body cannot break down certain amino acids in protein. Billing, Insurance & Financial Assistance.Individuals with many past surgeries and heart problems may not be permitted for a liver transplant. This procedure also carries a certain amount of risk as a number of various factors should be kept into account. In rare and severe conditions of maple syrup urine disease you can obtain a liver transplant as now your body fails to respond to the medications and the treatment that you obtain. You should develop a diet that has less amino acid levels, limited quantity of vitamins, minerals, omega 3 fatty acids and other nutrients should be consumed. Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach - ScienceDirect Molecular Genetics and Metabolism Volume 112, Issue 3, July 2014, Pages 210-217 Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach Dianne M. Diet control is essential to ensure better results of the course of the treatment. For the treatment of this condition, you should monitor with the amino acid levels in your body. If you follow the diet charge that your medical expert provides you with then it can prevent you from having neurological damages that might lead to the emergence of the maple syrup urine disease symptoms. ![]() Those who are diagnosed with this condition must consume amino acid free diet for the rest of their life. Diet is an important factor for the course of treatment in this case. The treatment procedure involves a protein free diet and fats are injected in your veins. In some rare cases of maple syrup urine disease, you can develop a condition of osteoporosis which can cause many complications regarding the course of treatment as well. The maple syrup urine disease can also cause certain renal infections if they are left untreated. Other symptoms of the maple syrup urine disease are unexpected weight loss, anemia (loss of blood cells), diarrhea, pancreatitis and even neurological problems. The amino acid levels in your body increase all of a sudden and cause the complications associated with it. In adults they also might arrive from a nerve disorder or from an injury or by excessive fasting. ![]() Infants and even adults might suffer from this disease which is caused by a neurological disorder. If the disease is untreated or unrecognized then it might lead you to have a seizure attack, coma or even death. The other symptoms for this disease are that you feel lethargic, have a poor appetite, muscle rigidity and of course a maple syrup smell from your urine, sweat and earwax. This occurs when the person suffers from a metabolic crisis. This is a rare condition where your urine smells sweet and similar to that of the smell of maple syrup. ![]()
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