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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.

SUBMITTER: Cho JH

PROVIDER: S-EPMC4038694 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature

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The first successful live birth following preimplantation genetic diagnosis using PCR for type 1 citrullinemia.

Cho Jae-Hyun JH Kim Chung-Hoon CH Lee Kyung-Hee KH Jeon Il-Kyung IK Kim Jae-Min JM Kang Byung-Moon BM

Obstetrics & gynecology science 20140515 3

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 ...[more]

PMID: 24883299

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