{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T22:15:48Z","timestamp":1757542548806},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4597,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two children, one with phenylketonuria (PKU) and the other nonphenylketonuric, from untreated pregnancies in a mother with PKU provided the opportunity to compare the degree of damage from maternal PKU between these genotypically different fetuses. Both the phenylketonuric offspring and her nonphenylketonuric sib were microcephalic at birth and had congenital anomalies, esophageal atresia in the former and congenital dislocation of the hip in the latter. However, the phenylketonuric child also had intrauterine growth retardation while the non\u2010phenylketonuric sib had normal weight and length at birth. Both children are mentally retarded with an IQ below 50 in the phenylketonuric child despite early dietary treatment for PKU and an IQ of 54 in the non\u2010phenylketonuric sib. Both children also have hypoplasia of the corpus callosum and enlarged cerebral ventricles. This experience and review of the literature indicates that the residual liver phenylalanine hydroxylase activity of a nonphenylketonuric fetus offers little or no protection from damage in untreated maternal PKU. Consequently, the outcome in maternal PKU is likely to depend on control of the maternal biochemical abnormalities in the mother regardless of whether the fetus has or does not have PKU. \u00a9 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320440411","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:28:56Z","timestamp":1118507336000},"page":"439-442","source":"Crossref","is-referenced-by-count":15,"title":["Comparison of phenylketonuric and nonphenylketonuric sibs from untreated pregnancies in a mother with phenylketonuria"],"prefix":"10.1002","volume":"44","author":[{"given":"Harvey L.","family":"Levy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"Lobbregt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claude","family":"Sansaricq","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Selma E.","family":"Snyderman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(88)90437-0"},{"key":"e_1_2_1_3_1","first-page":"1746","article-title":"Les enfants n\u00e9s de meres phenylc\u00e9tonuriques","volume":"43","author":"de Menibus CH","year":"1967","journal-title":"Ann P\u00e9diatr"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(87)91418-8"},{"key":"e_1_2_1_5_1","first-page":"73","volume-title":"Phenylketonuria and Some Other Inborn Errors of Metabolism","author":"Fisch RO","year":"1971"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100040849007"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1542\/peds.37.6.979","article-title":"Prenatal and postnatal developmental consequences of maternal phenylketonuria","volume":"37","author":"Fisch RO","year":"1966","journal-title":"Pediatrics"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.39.6.847"},{"key":"e_1_2_1_9_1","first-page":"138","article-title":"The dynamics of the properties of liver phenylalanine hydroxylase in human embryogenesis","volume":"21","author":"Laptev AV","year":"1990","journal-title":"Ontogenez"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80629-2"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198011203032104"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000469221"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)81003-3"},{"key":"e_1_2_1_14_1","first-page":"609","article-title":"Phenylalanin\u2010fetopathie bei Zwillingen einer nicht diagnostizierten phe\u2010nylketonurischen Mutter","volume":"191","author":"Muller WD","year":"1979","journal-title":"Klin P\u00e4diatr"},{"key":"e_1_2_1_15_1","first-page":"17","article-title":"A phe\u2010nylketonuric mother without mental retardation and her two phe\u2010nylketonuric children","volume":"15","author":"Onisawa J","year":"1968","journal-title":"Paediatr Univ Tokyo"},{"key":"e_1_2_1_16_1","first-page":"328","article-title":"Materska fenylketonurie","volume":"29","author":"Podhradska O","year":"1974","journal-title":"\u010cs Pediat"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197301000-00001"},{"key":"e_1_2_1_18_1","first-page":"189","article-title":"Kinder einer phenylketonurischen Frau. 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