Prenatal diagnosis of Canavan disease — Problems and dilemmas
Prenatal diagnosis of Canavan disease — Problems and dilemmas
复制标题
卡纳万病的产前诊断——问题与困境
DOI：
10.1023/a:1005534105933
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发表时间：
1999
影响因子：
4.2
通讯作者：
J. Walter
中科院分区：
文献类型：
--
作者：
G. Besley;O. Elpeleg;A. Shaag;N. Manning;C. Jakobs;J. Walter
Canavan disease (spongy degeneration of the brain; McKusick 271900) is a severe neurodegenerative disorder for which there is at present no effective treatment, although attempts at gene therapy are currently being investigated (During 1996). The disorder results from a deficiency of the enzyme aspartoacylase, which leads to an accumulation of N-acetylaspartate (NAA) in tissues and body fluids. The disorder is particularly prevalent among Ashkenazi Jews, where a carrier state of 1:45 common mutation (E285A) in the aspartoacylase gene has been identified. Diagnosis is usually established by the demonstration of raised N-acetylaspartate in urine, but confirmatory enzyme studies have proved difficult owing to low and variable enzyme activities, particularly in cultured cells. Consequently, identification of mutations in Ashkenazi Jewish and other patients is especially useful. Prenatal diagnosis by enzyme assay is generally held to be unreliable (Matalon et al 1995 ; Rolland et al 1994). However, measurement of N-acetylaspartate concentration in amniotic fluid by stable-isotope dilution is considered the most reliable approach, although where possible DNA analysis should complement this (Elpeleg et al 1994). We report our experience with prenatal diagnosis in one family where difficulties in interpreting metabolite results have highlighted the importance of complementary mutation analysis.
