Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: Pregnancy complications and neonatal sequelae in untreated and treated pregnancies

American Journal of Clinical Nutrition

Volumn 95, Issue 2, 2012, Pages 374-382

  Prick, Babette W ^a   Hop, Wim C J ^a   Duvekot, Johannes J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; EMBASE; FACE DYSMORPHIA; FEMALE; FETUS DEATH; FIRST TRIMESTER PREGNANCY; HUMAN; HYPERPHENYLALANINEMIA; INTELLECTUAL IMPAIRMENT; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MEDLINE; MICROCEPHALY; NEWBORN ASSESSMENT; PHENYLKETONURIA; PREGNANCY; PREGNANCY COMPLICATION; PREMATURE LABOR; SMALL FOR DATE INFANT; SPONTANEOUS ABORTION;

CONGENITAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FACIAL BONES; FEMALE; HUMANS; INFANT, NEWBORN; INFANT, SMALL FOR GESTATIONAL AGE; INTELLECTUAL DISABILITY; MICROCEPHALY; PHENYLALANINE; PHENYLKETONURIA, MATERNAL; PREGNANCY; PREGNANCY COMPLICATIONS; PREGNANCY OUTCOME; PREGNANCY TRIMESTERS; SKULL;

EID: 84856396663     PISSN: 00029165     EISSN: 19383207     Source Type: Journal    
DOI: 10.3945/ajcn.110.009456     Document Type: Article

References (52)

1. Verkerk PH. Twintig jaar landelijke screening op fenylketonurie in Nederland. [20-year national screening for phenylketonuria in The Netherlands. National Guidance Commission PKU]. Ned Tijdschr Geneeskd 1995;139:2302-5 (in Dutch).
2. de Valk HW, de Sonneville LM, Duran M, Poll-The BT, Erkelens DW. Een kinderziekte op de volwassen leeftijd: fenylketonurie. [Phenylketonuria: a children's disease in adulthood.] Ned Tijdschr Geneeskd 2000;144:11-5 (in Dutch). (Pubitemid 30040782)
3. Güttler F. Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr Scand Suppl 1980;280:1-80.
4. van Spronsen FJ, van Rijn M, Bekhof J, Koch R, Smit PG. Phenylketonuria: tyrosine supplementation in phenylalanine-restricted diets. Am J Clin Nutr 2001;73:153-7. (Pubitemid 32109842)
5. Matalon KM, Acosta PB, Azen C. Role of nutrition in pregnancy with phenylketonuria and birth defects. Pediatrics 2003;112:1534-6. (Pubitemid 37521692)
6. Levy HL. Historical background for the maternal PKU syndrome. Pediatrics 2003;112:1516-8. (Pubitemid 37521688)
7. Koch R, Hanley W, Levy H, Matalon R, Rouse B, Trefz F, Guttler F, Azen C, Friedman E, Platt L, et al. Maternal phenylketonuria: an international study. Mol Genet Metab 2000;71:233-9.
8. 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. (Pubitemid 30468558)
9. Hanley WB, Clarke JTR, Schoonheyt W. Maternal phenylketonuria (PKU) - a review. Clin Biochem 1987;20:149-56. (Pubitemid 17127089)
10. Maillot F, Cook P, Lilburn M, Lee PJ. A practical approach to maternal phenylketonuria management. J Inherit Metab Dis 2007;30:198-201. (Pubitemid 46488001)
11. Knerr I, Zschocke J, Schellmoser S, Topf HG, Weigel C, Dötsch J, Rascher W. An exceptional Albanian family with seven neonates presenting with dysmorphic features and mental retardation: maternal phenylketonuria. BMC Pediatr 2005;5:5.
12. Shaw-Smith C, Hogg SL, Reading R, Calvin J, Trump D. Learning and behavioural difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuria. Child Care Health Dev 2004;30:551-5. (Pubitemid 39255787)
13. Keller K, McCune H, Williams C, Muenke M. Lobar holoprosencephaly in an infant born to a mother with classic phenylketonuria. Am J Med Genet 2000;95:187-8.
14. Kesby G. Repeated adverse fetal outcome in pregnancy complicated by uncontrolled maternal phenylketonuria. J Paediatr Child Health 1999;35:499-502. (Pubitemid 29472850)
15. Koch R, Güttler F, Guldberg P, Rouse B. Mild hyperphenylalaninemia and heterozygosity of the phenylalanine hydroxylase gene. Mol Genet Metab 1998;63:148-50. (Pubitemid 28453333)
16. Wilkinson H, Holbrook IB. Maternal phenylketonuria. Ann Clin Biochem 1998;35:539-41. (Pubitemid 28349657)
17. Bachman RP, Schoen EJ, Backstrom MV, Lee RF, Rodwell Wiliams S, Jurecki ER. Phenylalaine embryopathy in three siblings: implications of maternal diet treatment. Am J Dis Child 1993;147:22-3. (Pubitemid 23026866)
18. Levy HL, Lobbregt D, Sansaricq C, Snyderman SE. Comparison of phenylketonuric and nonphenylketonuric sibs from untreated pregnancies in a mother with phenylketonuria. Am J Med Genet 1992;44:439-42.
19. Tolmie JL, Harvie A, Cockburn F. A teratogenic effect of undiagnosed maternal hyperPhe: a case for prevention? Br J Obstet Gynaecol 1992;99:347-8.
20. Usha R, Uma R, Farag TI, Girish Y, al-Ghanim MM, al-Najdi K, al-Awadi SA, el-Badramany MH. Late diagnosis of phenylketonuria in a Bedouin mother. Am J Med Genet 1992;44:713-5. (Pubitemid 23006099)
21. Superti-Furga A, Steinmann B, Duc G, Gitzelmann R. Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation. Eur J Pediatr 1991;150:493-7.
22. Thompson GN, Francis DE, Kirby DM, Compton R. Pregnancy in phenylketonuria: dietary treatment aimed at normalising maternal plasma phenylalanine concentration. Arch Dis Child 1991;66:1346-9.
23. Güttler F, Lou H, Andresen J, Kok K, Mikkelsen I, Nielsen KB, Nielsen JB. Cognitive development in offspring of untreated and preconceptionally treated MPKU. J Inherit Metab Dis 1990;13:665-71. (Pubitemid 20374470)
24. Pullon DH, Macfarlane SD, Lyon IC. Maternal phenylketonuria. N Z Med J 1990;103:397-8.
25. Davidson DC. Maternal phenylketonuria. Postgrad Med J 1989;65(suppl 2):S10-20. (Pubitemid 20017441)
26. Lynch BC, Pitt DB, Maddison TG, Wraith JE, Danks DM. Maternal phenylketonuria: successful outcome in four pregnancies treated prior to conception. Eur J Pediatr 1988;148:72-5.
27. Owada M, Abe M, Ono M, Kitagawa T, Sato YJ. Successful treatment of maternal phenylketonuria with a formula consisting of low phenylalanine peptide as a protein source. J Inherit Metab Dis 1988;11:341-4.
28. De Klerk JB, Wadman SK, Dijkhuis HJ, Meuleman EE. MPKU syndrome in an exeptional family with unexpected PKU. J Inherit Metab Dis 1987;10:162-70. (Pubitemid 17122816)
29. Farquhar DL, Simpson GK, Steven F, Munro JF, Farquhar JW. Pre-conceptual dietary management for maternal phenylketonuria. Acta Paediatr Scand 1987;76:279-83. (Pubitemid 17051384)
30. Rohr FJ, Doherty LB, Waisbren SE, Bailey IV, Ampola MG, Benacerraf B, Levy HL. New England Maternal PKU Project: prospective study of untreated and treated pregnancies and their outcomes. J Pediatr 1987;110:391-8. (Pubitemid 17028046)
31. Matalon R, Michals K, Gleason L. Maternal phenylketonuria: Strategies for dietary treatment and monitoring compliance. Ann N Y Acad Sci 1986;477:223-30. (Pubitemid 17019022)
32. Soeters RP, Sengers RC, van Dongen PW, Trijbels JM, Eskes TK. Maternal phenylketonuria: comparison of two treated full term pregnancies. Eur J Pediatr 1986;145:221-3. (Pubitemid 16033972)
33. Lenke RR, Koch R, Fishler K, Platt LD. Tyrosine supplementation during pregnancy in a woman with classical phenylketonuria. A case report. J Reprod Med 1983;28:411-4. (Pubitemid 13070975)
34. Levy HL, Waisbren SE. Effects of untreated MPKU and hyperphenylalaninemia on the fetus. N Engl J Med 1983;309:1269-74. (Pubitemid 14201581)
35. Koch R, Blaskovics MJ. Four cases of hyperphenylalaninemia: studies during pregnancy and of the offspring produced. J Inherit Metab Dis 1982;5:11-5. (Pubitemid 12145314)
36. Michels VV, Justice CL. Treatment of phenylketonuria during pregnancy. Clin Genet 1982;21:141-4. (Pubitemid 12135678)
37. Lenke RR, Levy HL. Maternal phenylketonuria-results of dietary treatment. Am J Obstet Gynecol 1982;142:548-53.
38. Levy HL, Kaplan GN, Erickson AM. Comparison of untreated and treated pregnancies in a mother with phenylketonuria. J Pediatr 1982;100:876-80. (Pubitemid 12123581)
39. Tenbrinck MS, Stroud HW. Normal infant born to a mother with PKU. JAMA 1982;247:2139-40. (Pubitemid 12139596)
40. Davidson DC, Isherwood DM, Ireland JT, Rae PG. Outcome of pregnancy in a phenylketonuric mother after low phenylalanine diet introduced from the ninth week of pregnancy. Eur J Pediatr 1981;137:45-8. (Pubitemid 11061528)
41. Lorijn RHW, Sengers RCA, Trijbels JMF. Maternal phenylketonuria: the outcome of pregnancy. Eur J Obstet Gynecol Reprod Biol 1981;12:281-5. (Pubitemid 12242533)
42. Blomquist HK, Gustavson KH, Holmgren G. Severe mental retardation in five siblings due to maternal phenyketonuria. Neuropediatrics 1980;11:256-61. (Pubitemid 11201095)
43. Scott TM, Fyfe WM, Hart DM. Maternal phenylketonuria: abnormal baby despite low phenylalanine diet during pregnancy. Arch Dis Child 1980;55:634-7. (Pubitemid 10059451)
44. Louis GB, Dukic V, Heagerty PJ, Louis TA, Lynch CD, Ryan LM, Schisterman EF, Trumble A. Analysis of repeated pregnancy outcomes. Stat Methods Med Res 2006;15:103-26.
45. Koch R, Friedman E, Azen C, Hanley W, Levy H, Matalon R, Rouse B, Trefz F, Waisbren S, Michals-Matalon K, et al. The international collaborative study of maternal phenylketonuria: status report 1998. Eur J Pediatr 2000;159:S156-60.
46. Platt LD, Koch R, Hanley MB. The international study of pregnancy outcome in women with maternal phenylketonuria: report of a 12-year study. Am J Obstet Gynecol 2000;182:326-33. (Pubitemid 30127343)
47. Rouse B, Azen C, Koch R, Matalon R, Hanley W, de la Cruz F, Trefz F, Friedman E, Shifrin H. Maternal Phenylketonuria Collaborative Study (MPKUCS) Offspring: facial anomalies, malformations and early neurological sequelae. Am J Med Genet 1997;69:89-95. (Pubitemid 27111187)
48. Diewert VM. Growth movements during prenatal development of human facial morphology. Prog Clin Biol Res 1985;187:57-66.
49. Lee PJ, Ridout D, Walter JH, Cockburn F. Maternal phenylketonuria: report of the United Kingdom Registry 1978-97. Arch Dis Child 2005;90:143-6. (Pubitemid 40188009)
50. Koch R, Hanley W, Levy H, Matalon K, Matalon R, Rouse B, Trefz F, Güttler F, Azen C, Platt L, et al. The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics 2003;112:1523-9. (Pubitemid 37521690)
51. Lenke RR, Levy HL. Maternal phenylketonuria and hyperphenylalaninemia: an international survey of the outcome of untreated and treated pregnancies. N Engl J Med 1980;303:1202-8. (Pubitemid 11207585)
52. Levy HL, Waisbren SE, Güttler F, Hanley WB, Matalon R, Rouse B, Trefz FK, de la Cruz F, Azen CG, Koch R. Pregnancy experiences in the woman with mild hyperphenylalaninemia. Pediatrics 2003;112:1548-52. (Pubitemid 37521695)