{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:21:45Z","timestamp":1747146105203,"version":"3.40.5"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,12,10]],"date-time":"2020-12-10T00:00:00Z","timestamp":1607558400000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the case of a 17\u2010year\u2010old girl with Tyrosinemia type 1a who carried a planned pregnancy to term while being under 2\u2010(2\u2010nitro\u20104\u2010trifluoromethylbenzoyl)\u20101,3\u2010cyclohexanedione (NTBC, nitisinone) treatment and a tyrosine\u2010 and phenylalanine\u2010restricted diet. She was on treatment since 2 months of age with poor metabolic control prior to her pregnancy (tyrosine 838\u2009\u00b1\u2009106 umol\/L). NTBC and a low tyrosine and phenylalanine diet were continued during her pregnancy. She unfortunately suffered from urinary tract infection and anemia during her pregnancy, with median plasma tyrosine and phenylalanine levels of 613\u2009\u00b1\u2009106 umol\/L (200\u2013400 umol\/L) and 40.2 \u00b1\u20098 umol\/L (35\u201390 umol\/L), respectively. After 40\u2009weeks of gestation, the patient gave birth to a healthy boy, with no adverse effects related to the use of NTBC. The newborn presented with a transitory elevation of plasma tyrosine levels and normal phenylalanine, methionine, and succinylacetone levels. By 12\u2009months of age, the child was determined to have normal psychomotor development. At 20\u2009months old, he was diagnosed with a mild developmental delay; however, global cognitive evaluation with the Wechsler Intelligence Scale for Children (WISC) test at 5\u2009years old showed normal performance. Here, we discuss one of the few reported cases of nitisinone treatment during pregnancy and demonstrate a lack of teratogenicity and long\u2010term cognitive disabilities.<\/jats:p>","DOI":"10.1002\/ajmg.c.31863","type":"journal-article","created":{"date-parts":[[2020,12,11]],"date-time":"2020-12-11T00:09:25Z","timestamp":1607645365000},"page":"1009-1013","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Case report: Maternal tyrosinemia type 1a under <scp>NTBC<\/scp> treatment with tyrosine\u2010 and phenylalanine restricted diet in Chile"],"prefix":"10.1002","volume":"184","author":[{"given":"Mar\u00eda F","family":"Medina","sequence":"first","affiliation":[{"name":"Faculty of Medicine University of Chile  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina","family":"Arias","sequence":"additional","affiliation":[{"name":"Genetics and Metabolic Disease Laboratory of Institute of Nutrition and Food Technology (INTA) University of Chile  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6103-9724","authenticated-orcid":false,"given":"Juan F","family":"Cabello","sequence":"additional","affiliation":[{"name":"Genetics and Metabolic Disease Laboratory of Institute of Nutrition and Food Technology (INTA) University of Chile  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alicia","family":"De la Parra","sequence":"additional","affiliation":[{"name":"Genetics and Metabolic Disease Laboratory of Institute of Nutrition and Food Technology (INTA) University of Chile  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alf","family":"Valiente","sequence":"additional","affiliation":[{"name":"Genetics and Metabolic Disease Laboratory of Institute of Nutrition and Food Technology (INTA) University of Chile  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Castro","sequence":"additional","affiliation":[{"name":"Genetics and Metabolic Disease Laboratory of Institute of Nutrition and Food Technology (INTA) University of Chile  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Fuenzalida","sequence":"additional","affiliation":[{"name":"Genetics and Metabolic Disease Laboratory of Institute of Nutrition and Food Technology (INTA) University of Chile  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ver\u00f3nica","family":"Cornejo","sequence":"additional","affiliation":[{"name":"Genetics and Metabolic Disease Laboratory of Institute of Nutrition and Food Technology (INTA) University of Chile  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,12,10]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2019-0540"},{"key":"e_1_2_11_3_1","first-page":"97","volume-title":"Errores innatos en el metabolismo del ni\u00f1o","author":"Cornejo V.","year":"2017"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anpedi.2010.03.005"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/chromsci\/bms022"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9569-8"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12023"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e3182a27463"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12112"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)92685-9"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(94)90044-2"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2011_88"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31863","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.c.31863","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31863","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,12]],"date-time":"2024-11-12T14:57:40Z","timestamp":1731423460000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31863"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10.1002\/ajmg.c.31863"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31863","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"type":"print","value":"1552-4868"},{"type":"electronic","value":"1552-4876"}],"subject":[],"published":{"date-parts":[[2020,12]]},"assertion":[{"value":"2020-10-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}