Undiagnosed maternal phenylketonuria: own clinical experience and literature review

References

• Williams R A, Mamotte C DS, Burnett J R. Phenylketonuria: an inborn error of phenylalanine. Clin Biochem Rev 2008; 29: 31–41
   PubMedGoogle Scholar
• Koch R, Hanley W, Levy H L, et al. The maternal phenylketonuria international study: 1984–2002. Pediatrics 2003; 112: 1523–1529
   PubMed Web of Science ®Google Scholar
• Missiou-Tsagaraki S, Soulpi K, Loumakou M. Phenylketonuria in Greece: 12 years’ experience. J Ment Defic Res 1988; 32: 271–287
   PubMedGoogle Scholar
• Muchamore I, Morphett L, Barlow-Stewart K. Exploring existing and deliberated community perspectives of newborn screening: informing the development of state and national policy standard in newborn screening and the use of dried blood spots. Aust and New Zealand Health Policy 2006; 3: 14
   PubMedGoogle Scholar
• AAP Newborn Screening Task Force. Newborn screening: a blueprint for the future. A call for a national agenda on state newborn screening programs. Pediatrics 2000; 106: 389–422
   PubMed Web of Science ®Google Scholar
• Hanley W. Finding the fertile woman with phenylketonuria. Eur J Obstet Gynecol Rep Biol 2008; 137: 131–135
   PubMed Web of Science ®Google Scholar
• Hanley W, Platt L, Bachman R, et al. Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case finding. Am J Obstet Gynecol 1999; 180: 986–994
   PubMed Web of Science ®Google Scholar
• Richardson S C, Aspbury R A, Fisher M J. The role of reversible phosphorylation in the hormonal control of phenylalanine hydroxylase in isolated rat proximal kidney tubules. Biochem J 1993; 292: 419–424
   PubMed Web of Science ®Google Scholar
• Hennermann J B, Bührer C, Blau N, Vetter B, Mönch E. Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria. Mol Genet Metab 2005; 86: 86–90
   PubMed Web of Science ®Google Scholar
• Hanley W B. Adult phenylketonuria. Am J Med 2004; 117: 590–595
   PubMed Web of Science ®Google Scholar
• Huijbregts S C, de Sonneville L M, van Spronsen F J, Licht R, Sergeant J A. The neuropsychological profile of early and continuously treated phenylketonuria; orienting, vigilance and maintenance versus manipulation-functions of working memory. Neurosci Biobehav Rev 2002; 152: 1012–1020
   Google Scholar
• Shulkin B L, Betz A L, Koeppe R A, Agranoff B W. Inhibition of neutral amino acid transport across the human blood-brain barrier by phenylalanine. J Neurochem 1995; 64: 1252–1257
   PubMed Web of Science ®Google Scholar
• Dyer C A. Pathophysiology of phenylketonuria. Ment Retard Dev Disab Res Rev 1999; 5: 104–112
   Google Scholar
• Walter J H, White F, Wraith J E, Jenkins J P, Wilson B P. Complete reversal of moderate/severe brain MRI abnormalities in a patient with classical phenylketonuria. J Inherit Metab Dis 1997; 20: 367–369
   PubMed Web of Science ®Google Scholar
• Moyle J J, Fox A M, Bynevelt M, Arthur M, Burnett J R. Event-related potentials elicited during a visual Go-Nogo task in adults with phenylketonuria. Clin Neurophysiol 2006; 117: 2154–2160
   PubMed Web of Science ®Google Scholar
• Tyfield L, Zschocke J, Stephenson A, Cockburn F, Harvie A, Bidwell J, Wood N, Hunt L. Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects. J Med Genet 1995; 32: 867–870
   PubMed Web of Science ®Google Scholar
• Weglage J, Wiedermann D, Denecke J, Feldmann R, Koch H, Ullrich K, Moller H. Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria. J Inherit Metab Dis 2002; 25: 431–436
   PubMed Web of Science ®Google Scholar
• Gizewska M, Cabalska B, Cyrytowski L, Nowacki P, Zekanowski C, Walczak M, et al. Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X genotype in the PAH gene. J Intellect Disabil Res 2003; 47: 146–152
   PubMed Web of Science ®Google Scholar
• Levy H L. Historical background for the maternal PKU syndrome. Pediatrics 2003; 112: 1516–1518
   PubMed Web of Science ®Google Scholar
• Güttler F, Azen C, Guldberg P, Romstad A, Hanley W B, Levy H L, et al. Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the maternal phenylketonuria collaborative study. Pediatrics 1999; 104: 258–262
   PubMed Web of Science ®Google Scholar
• Levy H L, Ghavami M. Maternal phenylketonuria: a metabolic teratogen. Teratology 1996; 53: 176–184
   PubMedGoogle Scholar
• Rouse B, Matalon R, Koch R, Azen C, Levy H, Hanley W, Trefz F, de la Cruz F. Maternal phenylketonuria syndrome: congenital heart defects, microcephaly, and developmental outcomes. J Pediatr 2000; 136: 57–61
   PubMed Web of Science ®Google Scholar
• Levy H L, Waisbren S E, Güttler F, Hanley W B, Matalon R, Rouse B, Trefz F K, de la Cruz F, Azen C G, Koch R. Pregnancy experiences in the woman with mild hyperphenylalaninemia. Pediatrics 2003; 112: 1548–1552
   PubMed Web of Science ®Google Scholar
• Levy H, Guldberg P, Güttler F, Hanley W, Matalon R, Rouse B, Trefz F, Azen C, Allred E, Koch R. Congenital heart disease in maternal phenylketonuria: report from the maternal PKU collaborative study. Pediatr Res 2001; 49: 636–642
   PubMed Web of Science ®Google Scholar
• Czeizel A E. Controlled studies of multivitamin supplementation on pregnancy outcome. Presented at the New York Academy of Sciences Meeting, New York, NY, May, 17–201992, (abstract 21)
   Google Scholar
• Guldberg P, Rey F, Zschocke J, Romano V, Francois B, Michiels L, Ullrich K, Hoffman G F, Burgard P, Schmidt H, et al. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 1998; 63: 1252–1253
   Web of Science ®Google Scholar
• Lara L, Magalhaes M, Janyario J, et al. The time has come: a new scene for PKU treatment. GMR 2006; 5: 33–44
   PubMed Web of Science ®Google Scholar
• Giovannini M, Verduci E, Salvatici E, Fiori L. Phenylketonuria: dietary and therapeutic challenges. J Inherit Metab Dis 2007; 30: 145–152
   PubMed Web of Science ®Google Scholar
• Pietz J, Kreis R, Rupp A, Mayatepek E, Rating D, Boesch C, et al. Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J Clin Invest 1999; 103: 1169–1178
   PubMed Web of Science ®Google Scholar
• Ding Z, Harding C O, Thöny B. State-of-the-art 2003 on PKU gene therapy. Mol Genet Metab 2004; 81: 3–8
   PubMed Web of Science ®Google Scholar