title: The first successful live birth following preimplantation genetic diagnosis using PCR for type 1 citrullinemia.
abstract: 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.
authors.affiliation: Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors.forename: Jae-Hyun
authors.initials: JH
authors.lastname: Cho
authors.affiliation: Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors.forename: Chung-Hoon
authors.initials: CH
authors.lastname: Kim
authors.affiliation: Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors.forename: Kyung-Hee
authors.initials: KH
authors.lastname: Lee
authors.affiliation: Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors.forename: Il-Kyung
authors.initials: IK
authors.lastname: Jeon
authors.affiliation: Medical Genetic Center, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors.forename: Jae-Min
authors.initials: JM
authors.lastname: Kim
authors.affiliation: Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors.forename: Byung-Moon
authors.initials: BM
authors.lastname: Kang
keywords: Citrullinemia; Preimplantation diagnosis