Poudrier J, Lettre F, St-Louis M, Tanguay R M
Centre de Recherche du CHUQ, Département de Médecine, Université Laval, Ste-Foy, Québec, Canada.
Prenat Diagn. 1999 Jan;19(1):61-3. doi: 10.1002/(sici)1097-0223(199901)19:1<61::aid-pd455>3.0.co;2-#.
Tyrosinaemia type I is caused by a deficiency of fumarylacetoacetate hydrolase and mainly affects the liver. This disease is characterized by the presence of a high level of succinylacetone. This metabolite has been used for prenatal diagnosis from amniotic fluid samples. One case with a normal level of succinylacetone in amniotic fluid has recently been described (Grenier et al., 1996). Here, we report that this patient is a compound heterozygote for two known mutations: E364X and IVS6-1g-->t. The low level of succinylacetone cannot be explained by these mutations.
I型酪氨酸血症由富马酰乙酰乙酸水解酶缺乏引起，主要影响肝脏。这种疾病的特征是存在高水平的琥珀酰丙酮。这种代谢物已被用于从羊水样本中进行产前诊断。最近描述了一例羊水中琥珀酰丙酮水平正常的病例（Grenier等人，1996年）。在此，我们报告该患者是两个已知突变E364X和IVS6-1g-->t的复合杂合子。琥珀酰丙酮的低水平无法用这些突变来解释。
