Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism
作者： S. Kölker , S. W. Sauer , G. F. Hoffmann , I. Müller , M. A. Morath
DOI: 10.1007/S10545-008-0823-Z
关键词:
摘要: … inherited disorders of amino acid and organic acid metabolism. … In addition to LNAA depletion, increased phenylalanine … are induced by an accumulation of putatively toxic metabolites …
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S. Blüml, A. Moreno-Torres, F. Shic, C.-H. Nguy, B. D. Ross, Tricarboxylic acid cycle of glia in thein vivohuman brain NMR in Biomedicine. ,vol. 15, pp. 1- 5 ,(2002) , 10.1002/NBM.725
Reuben Matalon, Michael Quast, Edward Ezell, Kimberlee Michals Matalon, Kimberlee Michals Matalon, Sylvia Szucs, Sankar Surendran, Wei Jinga, Stephen Tyring, Future role of large neutral amino acids in transport of phenylalanine into the brain. Pediatrics. ,vol. 112, pp. 1570- 1574 ,(2003)
D. M. Koeller, Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I Human Molecular Genetics. ,vol. 11, pp. 347- 357 ,(2002) , 10.1093/HMG/11.4.347
Alan J. Thompson, Sarah Tillotson, Isabel Smith, Brian Kendall, Susan G. Moore, David P. Brenton, Brain MRI changes in phenylketonuria: Associations with dietary status Brain. ,vol. 116, pp. 811- 821 ,(1993) , 10.1093/BRAIN/116.4.811
K.M. Gibson, D.C. Devivo, C. Jakobs, Vigabatrin therapy in patient with succinic semialdehyde dehydrogenase deficiency. The Lancet. ,vol. 334, pp. 1105- 1106 ,(1989) , 10.1016/S0140-6736(89)91126-4
Friedrich K. Trefz, Dagmar Scheible, Georg Frauendienst-Egger, Herbert Korall, Nenad Blau, Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. Molecular Genetics and Metabolism. ,vol. 86, pp. 75- 80 ,(2005) , 10.1016/J.YMGME.2005.06.026
Stefan Kölker, Sven F Garbade, Nikolas Boy, Esther M Maier, Thomas Meissner, Chris Mühlhausen, Julia B Hennermann, Thomas Lücke, Johannes Häberle, Jochen Baumkötter, Wolfram Haller, Edith Müller, Johannes Zschocke, Peter Burgard, Georg F Hoffmann, Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany Pediatric Research. ,vol. 62, pp. 357- 363 ,(2007) , 10.1203/PDR.0B013E318137A124
R. Matalon, K. Michals, D. Sebesta, M. Deanching, P. Gashkoff, J. Casanova, John M. Optiz, James F. Reynolds, Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. American Journal of Medical Genetics. ,vol. 29, pp. 463- 471 ,(1988) , 10.1002/AJMG.1320290234
C. N. Madhavarao, P. Arun, J. R. Moffett, S. Szucs, S. Surendran, R. Matalon, J. Garbern, D. Hristova, A. Johnson, W. Jiang, M. A. A. Namboodiri, Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease Proceedings of the National Academy of Sciences of the United States of America. ,vol. 102, pp. 5221- 5226 ,(2005) , 10.1073/PNAS.0409184102
M Erecińska, F Dagani, Relationships between the neuronal sodium/potassium pump and energy metabolism. Effects of K+, Na+, and adenosine triphosphate in isolated brain synaptosomes. The Journal of General Physiology. ,vol. 95, pp. 591- 616 ,(1990) , 10.1085/JGP.95.4.591