Genetic counseling is suggested for people who want to have children and who have a family history of maple syrup urine disease. Many states now screen all newborns with blood tests for MSUD.
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.
Wendel U, Ogier de Baulny H. Branched-chain organic acidurias/acidemias. In: Fernandes J, Saudubray J-m, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY: Springer; 2006:chap 19.
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