Matalon R, Kaul R, Michals K
Research Institute Miami Children's Hospital, FL 33155.
J Inherit Metab Dis. 1993;16(4):744-52. doi: 10.1007/BF00711906.
Deficiency of the enzyme aspartoacylase and the accumulation of N-acetylaspartic acid lead to a severe leukodystrophy and spongy degeneration of the brain, Canavan disease (McKusick 271900). Since our discovery in 1988 of the defect in Canavan disease, 144 patients with Canavan disease have been diagnosed in our laboratory. Most of these children are of Ashkenazi Jewish extraction. The level of enzyme activity can be used for carrier testing. Prenatal diagnosis has been difficult using the enzyme assay owing to the low activity of aspartoacylase in cultured chorionic villus samples or amniocytes. The determination of N-acetylaspartic acid in the amniotic fluid is another parameter for diagnosis; however, the levels may not always be elevated. Bovine and human aspartoacylase have been purified in our laboratory. Bovine and human cDNA and genomic clones have been isolated and six exons have been localized. This information is being used for the study of Canavan disease at the molecular level.
天冬氨酸酰基转移酶缺乏以及N - 乙酰天冬氨酸的积累会导致严重的脑白质营养不良和脑海绵状变性，即卡纳万病（麦库西克编号271900）。自1988年我们发现卡纳万病的缺陷以来，我们实验室已诊断出144例卡纳万病患者。这些儿童大多来自德系犹太人。酶活性水平可用于携带者检测。由于培养的绒毛膜绒毛样本或羊水中天冬氨酸酰基转移酶活性较低，使用酶测定法进行产前诊断一直很困难。羊水N - 乙酰天冬氨酸的测定是另一个诊断参数；然而，其水平并非总是升高。我们实验室已纯化了牛和人的天冬氨酸酰基转移酶。已分离出牛和人的cDNA及基因组克隆，并确定了六个外显子的位置。这些信息正用于卡纳万病的分子水平研究。
