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References

These sources were used to develop the Genetics Home Reference condition summary on maple syrup urine disease.

Chuang DT, Chuang JL, Wynn RM. Lessons from genetic disorders of branched-chain amino acid metabolism. J Nutr. 2006 Jan;136(1 Suppl):243S-9S. Review. PubMed citation
Gene Review: Maple Syrup Urine Disease
Mitsubuchi H, Owada M, Endo F. Markers associated with inborn errors of metabolism of branched-chain amino acids and their relevance to upper levels of intake in healthy people: an implication from clinical and molecular investigations on maple syrup urine disease. J Nutr. 2005 Jun;135(6 Suppl):1565S-70S. Review. PubMed citation
Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI. Diagnosis and treatment of maple syrup disease: a study of 36 patients. Pediatrics. 2002 Jun;109(6):999-1008. PubMed citation
Puffenberger EG. Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):18-31. PubMed citation
Simon E, Flaschker N, Schadewaldt P, Langenbeck U, Wendel U. Variant maple syrup urine disease (MSUD)--the entire spectrum. J Inherit Metab Dis. 2006 Dec;29(6):716-24. Epub 2006 Oct 25. PubMed citation

Reviewed: December 2008

Published: May 20, 2013