N-acetylaspartic aciduria due to aspartoacylase deficiency--a new aetiology of childhood leukodystrophy.
作者： L. Hagenfeldt , I. Bollgren , N. Venizelos
DOI: 10.1007/BF01800038
关键词:
摘要: We describe a male infant with psychomotor retardation and leukodystrophy who excretes large quantities ofN-acetylaspartate in his urine. A high CSF/plasma concentration ratio indicates that this substance originates the brain. Fibroblasts from patient are deficient aspartoacylase activity. It is proposed dysmyelination may be due to failure serve as carrier of acetyl groups mitochondria cytosol for lipogenesis.
springer.com
sci-hub.se 参考文章(18)
Tarun B. Patel, John B. Clark, Synthesis of N-acetyl-L-aspartate by rat brain mitochondria and its involvement in mitochondrial/cytosolic carbon transport Biochemical Journal. ,vol. 184, pp. 539- 546 ,(1979) , 10.1042/BJ1840539
Harris H. Tallan, STUDIES ON THE DISTRIBUTION OF N-ACETYL-l-ASPARTIC ACID IN BRAIN Journal of Biological Chemistry. ,vol. 224, pp. 41- 45 ,(1957) , 10.1016/S0021-9258(18)65008-2
Sanford M. Birnbaum, Leon. Levintow, Rembert B. Kingsley, Jesse P. Greenstein, Specificity of amino acid acylases. Journal of Biological Chemistry. ,vol. 194, pp. 455- 470 ,(1952) , 10.1016/S0021-9258(18)55898-1
Fred B. Goldstein, The enzymatic synthesis of N-acetyl-L-aspartic acid by subcellular preparations of rat brain. Journal of Biological Chemistry. ,vol. 244, pp. 4257- 4260 ,(1969) , 10.1016/S0021-9258(17)36410-4
Hidenari Shigematsu, Nobuyuki Okamura, Hiroshi Shimeno, Yasuo Kishimoto, Lou-sing Kan, Catherine Fenselau, Purification and Characterization of the Heat‐Stable Factors Essential for the Conversion of Lignoceric Acid to Cerebronic Acid and Glutamic Acid: Identification of N‐Acetyl‐l‐Aspartic Acid Journal of Neurochemistry. ,vol. 40, pp. 814- 820 ,(1983) , 10.1111/J.1471-4159.1983.TB08052.X
John C. McIntosh, Jack R. Cooper, Studies on the function of N-acetyl aspartic acid in brain. Journal of Neurochemistry. ,vol. 12, pp. 825- 835 ,(1965) , 10.1111/J.1471-4159.1965.TB10267.X
D. R. Curtis, J. C. Watkins, The excitation and depression of spinal neurones by structurally related amino acids. Journal of Neurochemistry. ,vol. 6, pp. 117- 141 ,(1960) , 10.1111/J.1471-4159.1960.TB13458.X
E.F. Hartree, Determination of protein: A modification of the lowry method that gives a linear photometric response Analytical Biochemistry. ,vol. 48, pp. 422- 427 ,(1972) , 10.1016/0003-2697(72)90094-2
J. V. Nadler, J. R. Cooper, N-acetyl-L-aspartic acid content of human neural tumours and bovine peripheral nervous tissues. Journal of Neurochemistry. ,vol. 19, pp. 313- 319 ,(1972) , 10.1111/J.1471-4159.1972.TB01341.X
A. F. D'Adamo, J. Crispin Smith, C. Woiler, The occurrence of N-acetylaspartate amidohydrolase (aminoacylase II) in the developing rat. Journal of Neurochemistry. ,vol. 20, pp. 1275- 1278 ,(1973) , 10.1111/J.1471-4159.1973.TB00097.X