Aspartoacylase Deficiency: The Enzyme Defect in Canavan Disease
作者： K. Michals , Reuben Matalon , M. Deanching , A. Johnson , I. Rapin
DOI: 10.1007/BF03335413
关键词:
摘要: Spongy degeneration of the brain, Canavan disease (CD; McKusick 27190) is an autosomal recessive leukodystrophy (van Bogaert and Bertrand, 1967). Recently, Matalon et al. (1988) have reported three children with CD who had excessive amounts N-acetylaspartic acid (NAA) in urine, blood deficiency aspartoacylase (EC 3.5.1.15) cultured skin fibroblasts brain. We expanded our studies to other patients leukodystrophies than CD. In addition, we purified from human bovine brain studied distribution NAA
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