General reference
J. Voet & D. Voet (1995) Biochemistry, Wiley, pp. 627-630, 690-693
D.J. Danner & L.J. Elsas (1989) "Abnormalities of branched chain amino acid and keto acid metabolism", In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds., The Metabolic Basis of Inherited Disease, McGraw-Hill Co., New York, 6th edition, 671-692
Specific Journal Reports
D.T. Chuang, L.S. Ku, & R.P. Cox (1982) "Biochemical basis of thiamin-responsive maple syrup urine disease", Trans. Assoc. Am. Phys. 95, 196-204
C.L. Clow, T.M. Reade, & C.R. Scriver (1981) "Outcome of early and long-term management of classical maple syrup urine disease", Pediatrics 68, 856-862
J. Dancis, J. Hutzler, & T. Rokkones (1972) "Intermittent branched-chain ketonuria", New Eng. J. Med. 276, 84-89
D.J. Danner & F. Peinemann (1994) "Maple Syrup Urine Disease 1954 to 1993", J. Inher. Metab. Dis. 17, 3-15
C.W. Fisher, J.L. Chuang, T.A. Griffin, K.S. Lau, R.P. Cox, & D.T. Chuang (1989) "Molecular phenotypes in cultured maple syrup urine disease cells: complete E(1)-alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex", J. Biol. Chem. 264, 3448-3453
S.C. Heffelfinger, E.T. Sewell, L.J. Elsas, & D.J. Danner (1984) "Direct physicalevidence for stabilization of branched-chain alpha-ketoacid dehydrogenase by thiamin pyrophosphate", Am. J. Hum. Genet. 36, 802-807
W.J. Herring, D.J. Danner, S. Litwer, & L.J. Elsas (1989) "Molecular genetics basis for inherited human disorders of branched-chain a-keto acid dehydrogenase complex", Ann. NY Acad. Sci. 573, 369-377
W.J. Herring, S. Litwer, J.L. Weber, & D.J. Danner (1991) "Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome I", Am. J. Hum. Genet. 48, 342-350
Y. Indo, I. Akaboshi, Y. Nobukuni, F. Endo, & I. Matsuda.(1980) "Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity", Hum. Genet. 80, 6-10
H. Mitsubuchi, Y. Nobukuni, I. Akaboshi, Y. Indo, F. Endo, & I. Matsuda (1991) "Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain a-keto acid dehydrogenase complex due to aberrant splicing", J. Clin. Invest., 1207-1211
J.D. Schylman, T.J. Lustberg, J.L. Kennedy, M. Museles, & J.E. Seegmiller (1970), "A new variant of maple syrup urine disease (branched chain ketoaciduria)", Am. J. Med., 49, 118-124
C.R. Scriver, S. MacKenzie, C.L. Clow, & E. Delvin (1971) "Thiamine-responsive maple-syrup-urine disease", Lancet, I, 310-312
S.E. Snyderman & C. Sansaricz (1985) "Newborn screening for maple syrup urine disease", J. Pediatr. 107, 259-261
S.C. Van Calcar, C.O. Harding, S.R. Davidson, L.A. Barness, & J.A. Wolff (1992) "Case Reports of Successful Pregnancy in Women With Maple Syrup Urine Disease and Propionic Acidemia", Am. J. Med. Genet. 44, 641-646
P.K.W. Wong, P. Justice, G.F. Smith, & D.Y.-Y. Hsia (1972) "A case of classical maple syrup urine disease, 'thiamine non-responsive'", Clin. Genet. 3, 27-33
B. Zhang, H.F. Edenberg, D.W. Crabb, & R.A. Harris (1989) "Evidence for Both a Regulatory Mutation and a Structural Mutation in a Family with Maple Syrup Urine Disease", J. Clin. Invest. 83, 1425-1429
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