{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T12:23:18Z","timestamp":1784204598774,"version":"3.55.0"},"reference-count":23,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2009,3,30]],"date-time":"2009-03-30T00:00:00Z","timestamp":1238371200000},"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":[[2009,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>No reports are available about the course of pregnancies in women with tetrahydrobiopterin (BH<jats:sub>4<\/jats:sub>) deficiencies or the effects of treatment with BH<jats:sub>4<\/jats:sub>, <jats:sc>l<\/jats:sc>\u2010dopa\/carbidopa and 5\u2010hydroxytryptophan (5\u2010OHTrp) on fetal development. We present for the first time the case of a mother with late\u2010diagnosed mild form of 6\u2010pyruvoyl\u2010tetrahydropterin synthase (PTPS) deficiency, the course of her two subsequent pregnancies and clinical evaluation with follow\u2010up of two offspring. In both pregnancies neurotransmitter precursors, as well as BH<jats:sub>4<\/jats:sub> dosages were increased proportionally to the mother's weight gain. To prevent maternal phenylketonuria (MPKU) syndrome, special attention was paid to increasing BH<jats:sub>4<\/jats:sub> dosages. Both pregnancies were complicated by threatened premature labour, by the mother's nicotinism and additionally, in the first pregnancy, by gestational diabetes mellitus and vaginitis. The first child was born in the 31st week of pregnancy with the symptoms of moderate intrauterine growth retardation (IUGR) and brain malformation in the form of right sided closed\u2010lip schizencephaly with absence of septum pellucidum. Although the girl demonstrates mild left\u2010sided hemiparesis, her psychological development at the age of 8 years is above average. The second child was born in the 37th week of pregnancy without brain anomalies and at the age of 5 years his psychomotor development is appropriate for the age. As the cause of brain malformations resulting in physical impairment in the first child is unknown, more data are essential to verify conclusions about the influence of the mother's BH<jats:sub>4<\/jats:sub> deficiency and the safety of her treatment for fetal development.<\/jats:p>","DOI":"10.1007\/s10545-009-1073-4","type":"journal-article","created":{"date-parts":[[2009,3,25]],"date-time":"2009-03-25T19:26:10Z","timestamp":1238009170000},"page":"83-89","source":"Crossref","is-referenced-by-count":7,"title":["Maternal tetrahydrobiopterin deficiency: The course of two pregnancies and follow\u2010up of two children in a mother with 6\u2010pyruvoyl\u2010tetrahydropterin synthase deficiency"],"prefix":"10.1002","volume":"32","author":[{"given":"M.","family":"Gi\u017cewska","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology Pomeranian Medical University Szczecin Unii Lubelskiej 1 71\u2013252 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Hnatyszyn","sequence":"additional","affiliation":[{"name":"Department of Neonatology Pomeranian Medical University Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Sagan","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery and Pediatric Neurosurgery Pomeranian Medical University Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Cyry\u0142owski","sequence":"additional","affiliation":[{"name":"Department of Imaging Diagnostic and Interventional Radiology Pomeranian Medical University Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"\u017bekanowski","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Disorders, Medical Research Center Polish Academy of Sciences Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Modrzejewska","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Pomeranian Medical University Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Nestorowicz","sequence":"additional","affiliation":[{"name":"Department of Feto\u2010Maternal Medicine Pomeranian Medical University Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Kubalska","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Psychiatry and Neurology Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Walczak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology Pomeranian Medical University Szczecin Unii Lubelskiej 1 71\u2013252 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,3,30]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"555","volume-title":"PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin","author":"Blau N","year":"2006"},{"key":"e_1_2_4_3_1","first-page":"25","volume-title":"Physician's Guide to the Treatment and Follow\u2010up of Metabolic Diseases","author":"Blau N","year":"2005"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-55878-8_7"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0196-94"},{"key":"e_1_2_4_6_1","first-page":"652","volume-title":"PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin","author":"Dhondt J\u2010L","year":"2006"},{"key":"e_1_2_4_7_1","first-page":"363","volume-title":"Pediatric Neurology. 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