Bolodár A, Török O, Szabó M, Váradi V, Papp Z
Orv Hetil. 1989 Jan 29;130(5):233-4.
The defect of the enzyme heparan sulfamidase is the cause of Sanfilippo A syndrome (mucopolysaccharidosis IIIA) which is an autosomal recessive inherited disease. Three children of a marriage couple who attended our genetical counselling died of this disease which at the moment is incurable. At the 10th week of the following pregnancy chorion villi analysis was carried out and normal values of the enzyme heparan sulfamidase were obtained. In view of this it was decided that pregnancy should continue. At the moment the child is one year old and clinical and laboratory findings also show that she is not affected.
硫酸乙酰肝素硫酸酯酶的缺陷是导致桑菲利波A综合征（黏多糖贮积症IIIA型）的原因，这是一种常染色体隐性遗传病。一对前来我们遗传咨询门诊的夫妇所生的三个孩子死于这种目前无法治愈之症。在接下来那次怀孕的第10周进行了绒毛膜绒毛分析，结果显示硫酸乙酰肝素硫酸酯酶值正常。鉴于此，决定继续妊娠。目前这个孩子一岁，临床和实验室检查结果也表明她未受影响。
