Disorders of Lysine Catabolism and Related Cerebral Organic-Acid Disorders

作者: G. F. Hoffmann

DOI: 10.1007/978-3-662-04285-4_20

关键词: TryptophanBiochemistryGlutaric acidOrganic acidFrontotemporal atrophyPipecolic acidChemistryHydroxylysine degradationLysine catabolism

摘要: Five inborn errors are known in the pathway of lysine catabolism, which is shared by tryptophan and hydroxylysine degradation.

参考文章(39)
A. Superti-Furga, G. F. Hoffmann, Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions European Journal of Pediatrics. ,vol. 156, pp. 821- 828 ,(1997) , 10.1007/S004310050721
R.J.A. Wanders, L. Vilarinho, H.P. Hartung, G.F. Hoffmann, P.A.W. Mooijer, G.A. Jansen, J.G.M. Huijmans, J.B.C. de Klerk, H.J. ten Brink, C. Jakobs, M. Duran, L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients. Journal of Inherited Metabolic Disease. ,vol. 20, pp. 725- 726 ,(1997) , 10.1023/A:1005355316599
Udo Wendel, Dietz Rating, Michael Frosch, Peter G. Barth, Ernst Christensen, Friedrich K. Trefz, Donald H. Hunneman, Folker Hanefeld, Gerd Kurlemann, Willy Lehnert, Charles R. Roe, Kurt Ullrich, Burkhard Lawrenz-Wolf, Brigitte Biggemann, Hans Jacobi, Hans-Josef Böhles, Jochen Weisser, Ruud B. H. Schutgens, Hans J. Bremer, Georg F. Hoffmann, Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy. Pediatrics. ,vol. 88, pp. 1194- 1203 ,(1991)
Melvyn P. Heyes, Hypothesis: a role for quinolinic acid in the neuropathology of glutaric aciduria type I. Canadian Journal of Neurological Sciences. ,vol. 14, pp. 441- 443 ,(1987) , 10.1017/S0317167100037872
Hans Bräuner-Osborne, Frank A. Sløk, Niels Skjærbæk, Bjarke Ebert, Naohiro Sekiyama, Shigetada Nakanishi, Povl Krogsgaard-Larsen, A New Highly Selective Metabotropic Excitatory Amino Acid Agonist: 2-Amino-4-(3-hydroxy-5-methylisoxazol-4-yl)butyric Acid Journal of Medicinal Chemistry. ,vol. 39, pp. 3188- 3194 ,(1996) , 10.1021/JM9602569
T. Zaharescu, J S. Jipa, C. Podină, 3-Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitro Journal of Inherited Metabolic Disease. ,vol. 22, pp. 259- 262 ,(1999) , 10.1023/A:1005577920954
J. Hutzler, R. P. Cox, J. Dancis, Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology. American Journal of Human Genetics. ,vol. 31, pp. 290- 299 ,(1979)
M. Duran, F. A. Beemer, S. K. Wadman, U. Wendel, B. Janssen, A patient with α-ketoadipic and α-aminoadipic aciduria Journal of Inherited Metabolic Disease. ,vol. 7, pp. 61- 61 ,(1984) , 10.1007/BF01805803
Kay Tanaka, Disorders of Organic Acid Metabolism Biology of Brain Dysfunction. pp. 145- 214 ,(1975) , 10.1007/978-1-4684-2673-1_3
I. Baric, L. Wagner, P. Feyh, M. Liesert, W. Buckel, G. F. Hoffmann, Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I. Journal of Inherited Metabolic Disease. ,vol. 22, pp. 867- 881 ,(1999) , 10.1023/A:1005683222187