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MeSH Review

Maple Syrup Urine Disease

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Disease relevance of Maple Syrup Urine Disease


High impact information on Maple Syrup Urine Disease


Chemical compound and disease context of Maple Syrup Urine Disease


Biological context of Maple Syrup Urine Disease


Anatomical context of Maple Syrup Urine Disease


Gene context of Maple Syrup Urine Disease


  1. The need of essential amino acids in children. An evaluation based on the intake of phenylalanine, tyrosine, leucine, isoleucine, and valine in children with phenylketonuria, tyrosine amino transferase defect, and maple syrup urine disease. Kindt, E., Halvorsen, S. Am. J. Clin. Nutr. (1980) [Pubmed]
  2. Glutamate and gamma-aminobutyric acid neurotransmitter systems in the acute phase of maple syrup urine disease and citrullinemia encephalopathies in newborn calves. Dodd, P.R., Williams, S.H., Gundlach, A.L., Harper, P.A., Healy, P.J., Dennis, J.A., Johnston, G.A. J. Neurochem. (1992) [Pubmed]
  3. Whole-body L-leucine oxidation in patients with variant form of maple syrup urine disease. Schadewaldt, P., Bodner-Leidecker, A., Hammen, H.W., Wendel, U. Pediatr. Res. (2001) [Pubmed]
  4. Prolongation of G1 and S phase in C-6 glioma cells treated with maple syrup urine disease metabolits. Morphologic and cell cycle studies. Liao, C.L., Herman, M.M., Bensch, K.G. Lab. Invest. (1978) [Pubmed]
  5. Monoamine oxidase and catechol-o-methyltransferase activity in cultured fibroblasts from patients with maple syrup urine disease, Lesch-Nyhan syndrome and healthy controls. Singh, S., Willers, I., Kluss, E.M., Goedde, H.W. Clin. Genet. (1979) [Pubmed]
  6. Branched-chain amino acid-free parenteral nutrition in the treatment of acute metabolic decompensation in patients with maple syrup urine disease. Berry, G.T., Heidenreich, R., Kaplan, P., Levine, F., Mazur, A., Palmieri, M.J., Yudkoff, M., Segal, S. N. Engl. J. Med. (1991) [Pubmed]
  7. E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype. Chuang, J.L., Cox, R.P., Chuang, D.T. J. Clin. Invest. (1997) [Pubmed]
  8. Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients. Chuang, J.L., Davie, J.R., Chinsky, J.M., Wynn, R.M., Cox, R.P., Chuang, D.T. J. Clin. Invest. (1995) [Pubmed]
  9. Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region. Mitsubuchi, H., Nobukuni, Y., Akaboshi, I., Indo, Y., Endo, F., Matsuda, I. J. Clin. Invest. (1991) [Pubmed]
  10. Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects. Tanaka, K., Mandell, R., Shih, V.E. J. Clin. Invest. (1976) [Pubmed]
  11. Glucose and alanine metabolism in children with maple syrup urine disease. Haymond, M.W., Ben-Galim, E., Strobel, K.E. J. Clin. Invest. (1978) [Pubmed]
  12. Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate. Chuang, D.T., Ku, L.S., Cox, R.P. Proc. Natl. Acad. Sci. U.S.A. (1982) [Pubmed]
  13. On the mechanisms of the formation of L-alloisoleucine and the 2-hydroxy-3-methylvaleric acid stereoisomers from L-isoleucine in maple syrup urine disease patients and in normal humans. Mamer, O.A., Reimer, M.L. J. Biol. Chem. (1992) [Pubmed]
  14. Complementation of defective leucine decarboxylation in fibroblasts from a maple syrup urine disease patient by retrovirus-mediated gene transfer. Mueller, G.M., McKenzie, L.R., Homanics, G.E., Watkins, S.C., Robbins, P.D., Paul, H.S. Gene Ther. (1995) [Pubmed]
  15. Effect of insulin on leucine kinetics in maple syrup urine disease. Collins, J.E., Umpleby, A.M., Boroujerdi, M.A., Leonard, J.V., Sonksen, P.H. Pediatr. Res. (1987) [Pubmed]
  16. Assessment of whole body L-leucine oxidation by noninvasive L-[1-13C]leucine breath tests: a reappraisal in patients with maple syrup urine disease, obligate heterozygotes, and healthy subjects. Schadewaldt, P., Bodner, A., Brösicke, H., Hammen, H.W., Wendel, U. Pediatr. Res. (1998) [Pubmed]
  17. Breastfeeding experience in inborn errors of metabolism other than phenylketonuria. Huner, G., Baykal, T., Demir, F., Demirkol, M. J. Inherit. Metab. Dis. (2005) [Pubmed]
  18. Control of pyruvate and beta-hydroxybutyrate utilization in rat brain mitochondria and its relevance to phenylketonuria and maple syrup urine disease. Land, J.M., Mowbray, J., Clark, J.B. J. Neurochem. (1976) [Pubmed]
  19. Inhibition, by 2-oxo acids that accumulate in maple-syrup-urine disease, of lactate, pyruvate, and 3-hydroxybutyrate transport across the blood-brain barrier. Cremer, J.E., Teal, H.M., Cunningham, V.J. J. Neurochem. (1982) [Pubmed]
  20. Maple syrup urine disease: analysis of branched chain ketoacid decarboxylation in cultured fibroblasts. Wendel, U., Wentrup, H., Rüdiger, H.W. Pediatr. Res. (1975) [Pubmed]
  21. Reduction of glutamate uptake into cerebral cortex of developing rats by the branched-chain alpha-keto acids accumulating in maple syrup urine disease. Funchal, C., Rosa, A.M., Wajner, M., Wofchuk, S., Pureur, R.P. Neurochem. Res. (2004) [Pubmed]
  22. Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex. Chuang, J.L., Fisher, C.R., Cox, R.P., Chuang, D.T. Am. J. Hum. Genet. (1994) [Pubmed]
  23. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex. Tsuruta, M., Mitsubuchi, H., Mardy, S., Miura, Y., Hayashida, Y., Kinugasa, A., Ishitsu, T., Matsuda, I., Indo, Y. J. Hum. Genet. (1998) [Pubmed]
  24. Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex. Chuang, D.T., Fisher, C.W., Lau, K.S., Griffin, T.A., Wynn, R.M., Cox, R.P. Mol. Biol. Med. (1991) [Pubmed]
  25. Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex. Fisher, C.W., Chuang, J.L., Griffin, T.A., Lau, K.S., Cox, R.P., Chuang, D.T. J. Biol. Chem. (1989) [Pubmed]
  26. Enzymatic method for branched chain alpha-ketoacid determination: application to rapid analysis of urine and plasma samples from maple syrup urine disease patients. Burgos, C., Civallero, G.E., de Kremer, R.D., Gerez de Burgos, N.M., Blanco, A. Acta physiologica, pharmacologica et therapeutica latinoamericana : órgano de la Asociación Latinoamericana de Ciencias Fisiológicas y [de] la Asociación Latinoamericana de Farmacología. (1999) [Pubmed]
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