Cho Jae-Hyun, Kim Chung-Hoon, Lee Kyung-Hee, Jeon Il-Kyung, Kim Jae-Min, Kang Byung-Moon
Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
Medical Genetic Center, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
Obstet Gynecol Sci. 2014 May;57(3):244-7. doi: 10.5468/ogs.2014.57.3.244. Epub 2014 May 15.
Type 1 citrullinemia (CTLN1) is an autosomal recessive inherited metabolic disorder caused by anargininosuccinicnate synthetase deficiency. The patient was a 38-year-old Korean woman who is a carrier for CTLN1 and her first baby was diagnosed with CTLN1. Preimplantation genetic diagnosis (PGD) for CTLN1 in day 3 embryos using polymerase chain reaction was performed for live birth of healthy baby who is no affected with CTLN1. One unaffected blastocyst was transferred. This resulted in a clinical pregnancy and the live birth of healthy male twin. They were confirmed to be unaffected with CTNL1 by post natal diagnosis. This is the first case report of the use of PGD for CTNL1.
1型瓜氨酸血症（CTLN1）是一种常染色体隐性遗传代谢紊乱疾病，由精氨琥珀酸合成酶缺乏引起。该患者是一名38岁的韩国女性，为CTLN1携带者，其第一个孩子被诊断为CTLN1。使用聚合酶链反应对第3天胚胎进行CTLN1的植入前基因诊断（PGD），以实现未受CTLN1影响的健康婴儿的活产。移植了一个未受影响的囊胚。这导致了临床妊娠并产下健康的男性双胞胎。产后诊断证实他们未受CTNL1影响。这是使用PGD诊断CTLN1的首例病例报告。
