Mononen T, Mononen I, Matilainen R, Airaksinen E
Department of Clinical Chemistry, Kuopio University Central Hospital, Finland.
Hum Genet. 1991 Jul;87(3):266-8. doi: 10.1007/BF00200902.
A high prevalence of the lysosomal storage disease aspartylglycosaminuria was found in a study of four birth cohorts of 12882 children in eastern Finland. Using school achievement tests and registers of mentally retarded individuals, 178 mentally retarded children were identified. Randomized urine samples from 151 of the 178 retarded children and from 101 healthy children were analyzed quantitatively for aspartylglucosamine by high-performance liquid chromatography. The results identified three affected individuals in the retarded group indicating an exceptionally high prevalence of aspartylglycosaminuria (1:3643) in the study population, consistent with a carrier frequency of 1:30. The 95% confidence limits for the prevalence are 1:4 352-1:16389. This is the highest prevalence described for any glycoproteinosis in any population and comparable to the incidence figures of the most common lysosomal storage diseases, Gaucher disease type I and Tay-Sachs disease among Ashkenazi Jews. In the study group, aspartylglycosaminuria was, after trisomy 21 (n = 19) and the fragile X syndrome (n = 6), the most common genetic cause for mental retardation.
在对芬兰东部四个出生队列的12882名儿童进行的一项研究中，发现溶酶体贮积病天冬氨酰葡糖胺尿症的患病率很高。通过学业成绩测试和智力发育迟缓个体登记册，确定了178名智力发育迟缓儿童。对178名发育迟缓儿童中的151名以及101名健康儿童的随机尿液样本进行了高效液相色谱法定量分析，以检测天冬氨酰葡糖胺。结果在发育迟缓组中确定了三名患病个体，表明该研究人群中天冬氨酰葡糖胺尿症的患病率异常高（1:3643），与1:30的携带者频率一致。患病率的95%置信区间为1:4352 - 1:16389。这是任何人群中任何糖蛋白病所描述的最高患病率，与最常见的溶酶体贮积病（阿什肯纳兹犹太人中的I型戈谢病和泰-萨克斯病）的发病率相当。在研究组中，天冬氨酰葡糖胺尿症是继21三体综合征（n = 19）和脆性X综合征（n = 6）之后，智力发育迟缓最常见的遗传原因。
