{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T08:45:06Z","timestamp":1788425106381,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,6,20]],"date-time":"2013-06-20T00:00:00Z","timestamp":1371686400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Maternal phenylketonuria (MPKU) is known to affect fetal outcome, often being associated with microcephaly and congenital heart defects (CHD) if the maternal diet is not appropriately managed. We hypothesized that other nutrients aside from phenylalanine (Phe) may have significant effects on fetal outcome in MPKU pregnancies. The 416 pregnancies that resulted in live births reported in the Maternal PKU Collaborative Study (MPKUCS) were grouped according to whether or not the offspring were diagnosed with CHD. The groups were compared on first\u2010trimester values of maternal data, including weight gain, plasma amino acids, protein and Phe intake, and red blood cell (RBC) folate. Patients were also grouped by first\u2010trimester average blood Phe (\u2264910 \u03bcmol\/L and &gt;910 \u03bcmol\/L) and then divided by total natural protein and medical food intake. The CHD group of 28 offspring had significantly higher blood Phe and lower proline, valine, methionine, isoleucine, leucine, lysine, arginine, and RBC folate. A significantly higher risk for CHD was found in the groups with lower natural protein and medical food intake, regardless of blood Phe levels. Insufficient natural protein and medical food product intake appears to be a risk factor for CHD independent of first\u2010trimester plasma Phe levels. Low RBC folate and plasma methionine levels in the CHD group may suggest involvement of global DNA hypomethylation.<\/jats:p>","DOI":"10.1007\/s10545-013-9627-x","type":"journal-article","created":{"date-parts":[[2013,6,19]],"date-time":"2013-06-19T01:31:32Z","timestamp":1371605492000},"page":"39-42","source":"Crossref","is-referenced-by-count":17,"title":["Maternal Phenylketonuria International Collaborative Study revisited: evaluation of maternal nutritional risk factors besides phenylalanine for fetal congenital heart defects"],"prefix":"10.1002","volume":"37","author":[{"given":"Shoji","family":"Yano","sequence":"first","affiliation":[{"name":"Genetics Division, Department of Pediatrics, LAC + USC Medical Center, Keck School of Medicine University of Southern California General Laboratory Building Room 1G\u201024, 1801 Marengo Street Los Angeles CA 90033 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"Moseley","sequence":"additional","affiliation":[{"name":"Genetics Division, Department of Pediatrics, LAC + USC Medical Center, Keck School of Medicine University of Southern California General Laboratory Building Room 1G\u201024, 1801 Marengo Street Los Angeles CA 90033 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teodoro","family":"Bottiglieri","sequence":"additional","affiliation":[{"name":"Institute of Metabolic Disease, Baylor Research Institute Dallas TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erland","family":"Arning","sequence":"additional","affiliation":[{"name":"Institute of Metabolic Disease, Baylor Research Institute Dallas TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colleen","family":"Azen","sequence":"additional","affiliation":[{"name":"Clinical and Translational Science Institute, Children's Hospital Los Angeles, Keck School of Medicine University of Southern California Los Angeles CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,6,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(10)60961-0"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.8.5347"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20761"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.placenta.2008.12.015"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/132.8.2393S"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000024114.82981.EA"},{"issue":"2","key":"e_1_2_7_8_1","first-page":"160","article-title":"One\u2010carbon metabolism nutrient status and plasma S\u2010adenosylmethionine concentrations in middle\u2010aged and older Chinese in Singapore","volume":"3","author":"Inoue\u2010Choi M","year":"2003","journal-title":"Int J Mol Epidemiol Genet"},{"key":"e_1_2_7_9_1","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1542\/peds.112.S4.1519","article-title":"Research design, organization, and sample characteristics of the maternal PKU collaborative study","volume":"112","author":"Koch R","year":"2003","journal-title":"Pediatrics"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI5017"},{"key":"e_1_2_7_11_1","doi-asserted-by":"crossref","unstructured":"PrickBWHopWCJDuvekotJJMaternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnanciesAm J Clin Nutr2012.","DOI":"10.3945\/ajcn.110.009456"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2003.10.062"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014370"},{"key":"e_1_2_7_14_1","doi-asserted-by":"crossref","unstructured":"TeissierRNowakEAssounMetalMaternal phenylketonuria: low phenylalaninemia might increase the risk of intrauterine growth retardationJ Inherit Metab Dis2012.","DOI":"10.1007\/s10545-012-9491-0"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0b013e31817dd058"},{"key":"e_1_2_7_16_1","doi-asserted-by":"crossref","unstructured":"VogelKR ArningE WasekBL BottiglieriT GibsonKM(2012)Non\u2010physiological amino acid (NPAA) therapy targeting brain phenylalanine reduction: pilot studies in PAH (ENU2) mice.J Inherit Metab Dis[Epub ahead of print].","DOI":"10.1007\/s10545-012-9524-8"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-277X.2006.00696.x"}],"container-title":["Journal of Inherited Metabolic 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