If a screening test shows that your baby may have MSUD, a follow-up blood test for amino acid levels should be done right away to confirm the disease. Many states now screen all newborns with blood testing for MSUD. Genetic counseling is suggested for people who want to have children and who have a family history of maple syrup urine disease. Also call your provider right away if you have a newborn who has symptoms of maple syrup urine disease. With strict dietary treatment, children have grown into adulthood and can remain healthy.Ĭontact your health care provider if you have a family history of MSUD and are planning to start a family. This disease can be life threatening if untreated.Įven with dietary treatment, stressful situations and illness can still cause high levels of certain amino acids. This requires frequent blood tests and close supervision by a registered dietitian and physician, as well as cooperation by parents of children with the condition. It is very important to always follow this diet to prevent nervous system (neurological) damage. People with this condition must remain on a diet low in these amino acids for life. Subscribe to Codify by AAPC and get the code details in a flash. For infants, the diet includes a formula with low levels of the amino acids leucine, isoleucine, and valine. ICD-10 code E71.0 for Maple-syrup-urine disease is a medical classification as listed by WHO under the range - Endocrine, nutritional and metabolic diseases. Long-term treatment requires a special diet. Dialysis through your belly or a vein can be done to reduce the level of abnormal substances in your blood. Fluids, sugars, and sometimes fats are given through a vein (IV). When the condition is diagnosed, and during episodes, treatment involves eating a protein-free diet. Ketones can also be measured with a urine test. A ketone blood test measures the amount of ketones in the blood.
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