Maternal phenylketonuria collaborative study (MPKUCS) - The 'outliers'

Journal of Inherited Metabolic Disease

Volumn 27, Issue 6, 2004, Pages 711-723

  Hanley, W B ^a   Azen, C ^b   Koch, R ^b   Michals Matalon, K ^c   Matalon, R ^c   Rouse, B ^c   Trefz, F ^d   Waisbren, S ^e   de la Cruz, F ^f  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b CHILDREN S HOSPITAL LOS ANGELES   (United States)

^c University of Texas Medical Branch School of Medicine   (United States)

^d Reutlingen College of Technology   (Germany)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL RESPONSE MODIFIER; PHENYLALANINE;

ADULT; ANALYTICAL PARAMETERS; ARTICLE; CLINICAL STUDY; CONTROLLED STUDY; COOPERATION; DISEASE SEVERITY; FEMALE; FETUS DISEASE; GENE FUNCTION; HEREDITY; HUMAN; HYPOTHESIS; INTELLIGENCE QUOTIENT; INTELLIGENCE TEST; MAJOR CLINICAL STUDY; MATERNAL BLOOD; MENTAL DEFICIENCY; MOTHER; OUTCOMES RESEARCH; PHENYLKETONURIA; PREGNANCY COMPLICATION; PRESCHOOL CHILD; PROGENY; RISK FACTOR;

ADOLESCENT; ADULT; DATA COLLECTION; FEMALE; HUMANS; MENTAL RETARDATION; PHENYLKETONURIAS; RISK FACTORS; TREATMENT OUTCOME; WECHSLER SCALES;

EID: 7244238104     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000045758.86492.54     Document Type: Article

References (34)

1. Angeli E, Denman AR, Harris R, et al (1974) Maternal phenylketonuria: A family with seven mentally retarded siblings. Dev Med Child Neurol 16: 800-807.
2. Caldwell BM, Bradley RH. (1984) Home Observation for Measurement of the Environment. Little Rock: University of Arkansas, College of Education, Center for Child Development and Education.
3. Clarren SK, Smith DW (1978) The fetal alcohol syndrome. N Engl J Med 298: 1063-1067.
4. Drogari E, Beasly M, Smith I, et al (1987) Timing of strict diet in relation to fetal damage in maternal phenylketonuria. Lancet ii: 927-930.
5. Frankenburg WK, Duncan BR, Coffelt W, et al (1968) Maternal phenylketonuria: Implications for growth and development. J Pediatr 73: 560-570.
6. Hard ML, Raha S, Spino M, et al (2001) Impairment of pyruvate dehydrogenase activity by acetaldehyde. Alcohol 25: 1-8.
7. Heaton MB, Moore DB, Paiva M, et al (1999) Bcl-2 overexpression protects the neonatal cerebellum from ethanol neurotoxicity. Brain Res 817: 13-18.
8. Hollingshead AB (1957) Two Factor Index of Social Position. Department of Sociology, Yale University, PO Box 1965, Yale Station, New Haven, CT, 06520-1965, USA.
9. Howell RR, Stevenson RE (1971) The offspring of phenylketonuric women. Soc Biol 18: S19-S29.
10. Hsia DY-Y (1970) Phenylketonuria and its variants. Prog Med Genet 7: 29-68.
11. Jervis GA (1954) Phenylpyruvic oligophrenia (phenylketonuria). Assoc Res Nerv Dis Proc 33: 259-282.
12. Koch R, Blaskovics M (1982) Four cases of hyperphenylalaninemia: studies during pregnancy of the offspring produced. J Inherit Metab Dis 5: 11-15.
13. Koch R, Hanley W, Levy HL, et al (2003) The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics 112: 1523-1529.
14. Lenke R, Levy HL (1980) Maternal phenylketonuria and hyperphenylalaninemia: An international survey of the outcome of untreated and treated pregnancies. N Engl J Med 303: 1202-1208.
15. Levy HL, Ghavami M (1996) Maternal phenylketonuria: A metabolic teratogen. Teratology 53: 176-184.
16. Levy HL, Waisbren SE (1983) Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. N Engl J Med 309: 1269-1274.
17. Levy HL, Lobbregt D, Sansaric QC, et al (1992) Comparison of phenylketonuric and nonphenylketonuric sibs from untreated pregnancies in a mother with phenylketonuria. Am J Med Genet 44: 439-442.
18. Levy HL, Goss B, Sullivan DK, et al (1994a) Maternal mild hyperphenylalaninemia: Result of treated and untreated pregnancies in two sisters. J Pediatr 125: 467-469.
19. Levy HL, Waisbren SE, Lobbregt D, et al (1994b) Maternal mild hyperphenylalaninemia: An international survey of offspring outcome. Lancet 344: 1589-1593.
20. Levy HL, Waisbren SE, Guttler F, et al (2003) Pregnancy experiences in the woman with mild hyperphenylalaninemia. Pediatrics 112: 1548-1552.
21. Lipson A, Beuhler B, Bartley J, et al (1984) Maternal hyperphenylalaninemia fetal effects. J Pediatr 104: 216-220.
22. Mabry CC, Denniston JC, Coldwell JG (1996) Mental retardation in children of phenylketonuric monthers. N Engl J Med 275: 1331-1336.
23. McCarver DG (2001) ADH2 and CYP2E1 genetic polymorphism: Risk factors for alcohol related birth defects. Drug Metab Dispos 29: 562-565.
24. McCarver DG, Thomasson HR, Martier SS, et al (1997) Alcohol dehydrogenase-2*3 allele protects against alcohol-related birth defects among African Americans. J Pharmacol Exp Ther 283: 1095-1101.
25. Michals-Matalon K, Acosta PB, Austin V, et al (1996) Nutrition and reproductive outcome in maternal phenylketonuria. Eur J Pediatr 155 (supplement 1): S165-168.
26. Partington MW (1962) Variations in intelligence in phenylketonuria. Can Med Assoc J 86: 736-743.
27. Perry TL, Hansen S, Tischler B, et al (1973) Unrecognized adult phenylketonuria: Implications for obstetrics and psychiatry. N Engl J Med 289: 395-398.
28. Pitt D, Gooch J (1974) The problem of maternal phenylketonuria. Aust Paediatr J 10: 337-342.
29. Robinson BH, MacMillan H, Petrova-Benedict R, et al (1987) Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex. J Pediatr 111: 525-533.
30. Rouse B, Azen C, Friedman E, et al (1997) Maternal Phenylketonuria Collaborative Study offspring: Facial dysmorphology, major and minor malformations. Am J Med Genet 69: 89-95.
31. Scriver CR (1989) The salience of Garrod's 'molecular groupings' and 'inborn factors in disease'. J Inherit Metab Dis 12 supplement 1): 9-24.
32. Viljoen DL, Carr LG, Foround TM, et al (2001) Alcohol dehydrogenase-2*2 allele is associated with decreased prevalence of fetal alcohol syndrome in the mixed ancestry population of the Western Cape Province, South Africa. Alcohol Clin Exp Res 25: 1719-1722.
33. Widaman KF, Azen CG (2003) Relation of prenatal phenylalanine exposure to infant and childhood cognitive outcomes: Results from the International Maternal PKU Collaborative Study. Pediatrics 112: 1537-1543.
34. Woolf LI, Omstead C, Lee D, et al (1961) Atypical phenylketonuria in two sisters with normal offspring. Lancet ii: 464-465.