Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance

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Unal O., COŞKUN T., ORHAN D., Tokatl A., DURSUN A., ÖZTÜRK HİŞMİ B., ...More

JIMD REPORTS, VOL 13, vol.13, pp.33-36, 2014 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 13
  • Publication Date: 2014
  • Doi Number: 10.1007/8904_2013_259
  • Journal Name: JIMD REPORTS, VOL 13
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Directory of Open Access Journals
  • Page Numbers: pp.33-36
  • Hacettepe University Affiliated: Yes


Maternal lysinuric protein intolerance (LPI) is associated with increased risk of anemia, toxemia, and retarded growth in fetus during pregnancy, and bleeding complications during delivery. There has been limited number of reports about pregnancy and outcomes of lactation in LPI. Here we present pregnancy and lactation outcomes in a Turkish patient with LPI. In the pregnancy and delivery period, her metabolic status was stable with protein-restricted diet and citrulline. Pathological examination of the placenta revealed multifocal placental infarcts. A successful outcome was achieved with well-controlled anemia, thrombocytopenia despite hemophagocytosis in bone marrow, and placental infarcts during pregnancy. The baby was exclusively breastfed for 6 months. His growth and development was normal. Mild proteinuria started at the fourth month of the delivery. Our case report showed the importance of follow-up of these patients in terms of placental pathologies during pregnancy and for other complications during lactation period.