NEWBORN SCREENINGDisorder name: Maple Syrup Urine Disease. Acronym: MSUD Type 1. AThis fact sheet has information about MSUD. Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be recommended for some children but not others. All children with MSUD should be followed by a metabolic doctor in addition to their primary doctor. What is MSUD? MSUD stands for “maple syrup urine disease”. It is named for the sweet maple syrup smell of the urine in untreated babies. This condition is one type of amino acid disorder. People with MSUD have problems breaking down certain amino acids found in protein. A number of different enzymes are needed to process. Online Medical Dictionary and glossary with medical definitions, m listing. Works to prevent disabilities and early death from disorders detectable through newborn screening. Information on screening and diseases, FAQs, family stories and. Maple syrup urine disease (MSUD) is inherited, which means it is passed down through families. It is caused by a defect in 1 of 3 genes. People with this condition. Amino acids are organic compounds that combine to form proteins. Amino acids and proteins are the building blocks of life. When proteins are digested or broken down. Diagnosis of Ataxia. Being diagnosed with Ataxia can be overwhelming. Below are a few frequently asked questions that can help you to understand ataxia better. Cushing’s Disease book released. Cushing’s Disease: An Often Misdiagnosed and Not So Rare Disorder, edited by Dr. Edward Laws, MD and Louise Pace, President of. Number: 0061 (Replaces CPB 144) Policy. Notes: For members with such a plan benefit, specific nutritional support is considered to be a medical item only when it is. Because of missing or non- working. These amino acids, along with other toxic substances. The symptoms and treatment vary between different amino acid disorders. ![]() ![]() ![]() ![]() They can also vary from person to person with the same amino acid disorder. See the fact sheets for each specific amino acid disorder. Amino acid disorders are inherited in an autosomal. What causes MSUD? In order for the body to use protein from the food we eat, it is broken down into smaller parts called amino acids. Special enzymes then make changes to the amino acids so the body can use them. The job of this enzyme group is to break down three different amino acids called leucine, isoleucine and valine. When they cannot be broken down, these amino acids build up in the blood and cause problems. They are found in all foods that contain protein. Large amounts are found in meat, eggs, milk, and other dairy foods. Smaller amounts are found in flour, cereal, and in some vegetables and fruits. If MSUD is not treated, what problems occur? There are a number of different forms of MSUD. The most common form, “classic MSUD”, can be life- threatening and must be treated promptly to prevent serious health problems. Other forms, including . These milder forms are less common. This fact sheet contains information on classic MSUD. Some of the first symptoms of a metabolic crisis are: extreme sleepiness sluggishness irritable mood vomiting. If not treated, other symptoms can follow: episodes where muscles tone alternates between being rigid and floppyswelling of the brain seizureshigh levels of acidic substances in the blood, called metabolic acidosiscoma, sometimes leading to death. Symptoms of a metabolic crisis often happen: after going too long without food during illness or infection during stressful events such as surgery. Without treatment, brain damage can occur. This can cause intellectual disabilities or spasticity. If not treated, most babies die within a few months. Prompt treatment is needed to prevent intellectual disabilities and serious medical problems. Most children need to eat a very low- protein diet and drink a special medical formula. You should start the diet and the formula as soon as you know your child has MSUD. Your dietician can create a food plan that contains the right amount of protein, nutrients, and energy to keep your child healthy. Medical Formula. In addition to a low- protein diet, children are often given a special medical formula as a substitute for milk. This formula gives them the nutrients and protein they need while helping keep their BCAA levels in a safe range. Your metabolic doctor and dietician will tell you what type of formula is best and how much to use. Diet low in branched- chain amino acids. The diet is made up of foods that are very low in the BCAAs. This means your child will need to avoid foods such as cow’s milk, regular formula, meat, fish, cheese and eggs. Regular flour, dried beans, nuts, and peanut butter also have BCAAs and must be avoided or strictly limited. Many vegetables and fruits have only small amounts of the BCAAs and can be eaten in carefully measured amounts. Some states offer help with payment, or require private insurance coverage for medical formula and other special medical foods. The exact plan will depend on many things such as your child’s age, weight, and general health. Your dietician will fine- tune the diet over time. Any diet changes should be made under the guidance of a dietician. Lifelong treatment with the MSUD diet is necessary. Children are at risk for episodes of metabolic crisis when they don’t follow the diet. Some children with classic MSUD may also benefit from thiamine. Ask your doctor whether your child should take thiamine supplements. Do not use any supplements without checking with your doctor. Tracking BCAA levels. Your child will have regular blood tests to measure amino acid levels. The diet and formula may need to be adjusted based on blood test results. In order to prevent problems, call your doctor right away when your child has any of the following: - poor appetite- low energy or extreme sleepiness- vomiting- an infection or illness- a fever- behavior or personality changes- difficulty walking or balance problems. Children with MSUD need to eat more carbohydrates and drink more fluids during any illness – even if they’re not hungry – or they could have a metabolic crisis. Children who are sick may not want to eat. If they can’t eat, or if they show signs of a metabolic crisis, they may need to be treated in the hospital. The BCKAD enzyme that causes MSUD is located in the liver. Because of this, some children with MSUD have had liver transplantation surgery (removal of their liver and replacement with a donor liver) to treat their MSUD symptoms. However, successful liver transplantation cures people of their MSUD symptoms. Early treatment can help prevent brain damage and intellectual disabilities. However, children with MSUD are at increased risk to have attention deficit hyperactivity disorder (ADHD), anxiety and depression even if they have had a liver transplant. The reasons for this are not well understood at this time. Even with treatment, some children still develop swelling of the brain or have episodes of metabolic crisis. Children who have repeated metabolic crises may develop permanent brain damage. This can cause lifelong learning problems, intellectual disabilities or spasticity. People with MSUD have a pair of genes that do not work correctly. Because of these gene changes, the BCKAD enzymes do not work properly or are not made at all. How is MSUD inherited? MSUD is inherited in an autosomal recessive manner. It affects both boys and girls equally. These children inherit one non- working gene for MSUD from each parent. Instead, each parent has a single non- working gene for MSUD. They are called carriers. There is a 5. 0% chance for the child to be a carrier, just like the parents. And, there is a 2. Genetic counselors can answer your questions about how the condition is inherited, choices during future pregnancies, and how to test other family members. Ask your doctor about a referral to a genetic counselor. Is genetic testing available? Genetic testing for MSUD can be done on a blood sample. DNA testing is not necessary to diagnose your child. It can be helpful for carrier testing or prenatal testing, discussed below. What other testing is available? MSUD can be confirmed by measuring the amount of the branched chain amino acids in a blood sample. It can also be diagnosed by an enzyme test using a blood or skin sample. Talk to your doctor or genetic counselor if you have questions about testing for MSUD. The sample needed for this test is obtained by either CVS or amniocentesis. If DNA testing would not be helpful, an enzyme test can be done on cells from the fetus. Again, the sample needed for this test is obtained by either CVS or amniocentesis. A genetic counselor can talk to you about your choices and answer questions about prenatal testing or testing your baby after birth. If you have questions about testing your other children, talk with your metabolic doctor or genetic counselor. Except in special cases, carrier testing should only be done on people over 1. It is important for other family members to be told that they could be carriers. There is a small chance they are also at risk to have children with MSUD. However, when both parents are carriers, newborn screening results are not sufficient to rule out the condition in a newborn baby. In this case, special diagnostic testing should be done in addition to newborn screening. It is very important that this testing be done shortly – ideally at 2. Talk to your metabolic doctor if you have questions about testing for MSUD. Carrier testing. If both gene changes have been found in your child, other family members can have DNA testing to see if they are carriers. If you have questions about carrier testing, ask your genetic counselor or metabolic doctor. It is more common in Mennonite people in certain parts of the United States. In the U. S., about one in 3. Mennonite background is born with MSUD. It is also more common in people of French- Canadian ancestry. These other forms are not discussed in this fact sheet. All content (. You are encouraged to confer with your doctor or other health care professional with regard to information contained on this information sheet. After reading this information sheet, you are encouraged to review the information carefully with your doctor or other healthcare provider. The Content is not intended to be a substitute for professional medical advice, diagnosis or treatment. NEVER DISREGARD PROFESSIONAL MEDICAL ADVICE, OR DELAY IN SEEKING IT, BECAUSE OF SOMETHING YOU HAVE READ ON THIS INFORMATION SHEET. Med. Terms - Alpha Index, M listing. What Does Psoriasis Look Like?
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