Quality of dietary control in phenylketonuric patients and its relationship with general intelligence

Nutricion Hospitalaria

Volumn 25, Issue 1, 2010, Pages 60-66

  Vilaseca, M A ^a,c   Lambruschini, N ^b,c   Gomez Lopez L ^b,c,d,e   Gutierrez A ^b,c   Fuste E ^a,c   Gassio R ^a   Artuch, R ^a,c,d   Campistol, J ^a,c,d  

^a Department of Biochemistry ^*

^b Hepatology and Nutrition   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^e HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

Dietary treatment; Intelligence quotient; Phenylalanine; Phenylketonuria; Recommendations

Indexed keywords

ADOLESCENT; ADULT; AGING; ARTICLE; CHILD; CROSS-SECTIONAL STUDY; DIET THERAPY; FEMALE; HUMAN; INFANT; INTELLIGENCE; LONGITUDINAL STUDY; MALE; PHENYLKETONURIA; PHYSIOLOGY; PRESCHOOL CHILD; PSYCHOLOGICAL ASPECT;

ADOLESCENT; ADULT; AGING; CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; FEMALE; HUMANS; INFANT; INTELLIGENCE; LONGITUDINAL STUDIES; MALE; PHENYLKETONURIAS; YOUNG ADULT;

EID: 76449086705     PISSN: 02121611     EISSN: 16995198     Source Type: Journal    
DOI: 10.3305/nh.2010.25.1.4482     Document Type: Article

References (25)

1. Scriver CR, Kaufman C, Eisensmith RC, Woo SLC. The hyperphenylalaninemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. The metabolic and molecular basis of inherited disease. New York: McGraw Hill, 2001, pp. 1667-1724.
2. Przyrembel H, Bremer HJ. Nutrition, physical growth, and bone density in treated phenylketonuria. Eur J Pediatr 2000; 159 (Supl. 2): S129-S135.
3. Blau N, Erlandsen H. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab 2004; 82: 101-111.
4. Lambruschini N, Perez-Duenas B, Vilaseca MA et al. Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy. Mol Genet Metab 2005; 86 (Supl. 1): S54-S60.
5. Welsh MC, Pennington BF, Ozonoff S. Neuropsychology of early-treated phenylketonuria: Specific executive function deficits. Child Dev 1990; 61: 1967.
6. Waisbren SE, Brown MJ, De Sonneville LMJ, Levy HL. Review of neuropsychological functioning in treated phenylketonuria: An information processing approach. Acta Paediatr Suppl 1994; 407: 98-103.
7. Anderson PJ, Wood SJ, Francis DE et al. Neuropsychological functioning in children with early-treated phenylketonuria: Impact of white matter abnormalities. Dev Med Child Neurol 2004; 46: 230-238.
8. Gassio R, Artuch R, Vilaseca MA et al. Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. Dev Med Child Neurol 2005; 47: 443-448.
9. Smith I, Beasley MG, Ades AE. Intelligence and quality of dietary treatment in phenylketonuria. Arch Dis Child 1990; 65: 472-478.
10. Rupp A, Burgard P. Comparison of different indices of dietary control in phenylketonuria. Acta Paediatr 1995; 84: 521-527.
11. Lichter-Konecki U, Rupp A, Konecki DS, Trefz FK, Schmidt H, Burgard P. Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninemic disorders. J Inherit Metab Dis 1994; 17: 362-365.
12. Anon. Recommendations on the dietary management of phenylketonuria: Report of Medical Research Council Working Party on Phenylketonuria. Arch Dis Child 1993; 68: 426-427.
13. Burgard P, Bremer HJ, Bührdel P et al. Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997. Eur J Pediatr 1999; 158: 46-54.
14. Wappner R, Cho S, Kronmal RA, Schuett V, Seashore MR. Management of phenylketonuria for optimal outcome: A review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors. Pediatrics 1999; 104: 4-9.
15. Ogier De Baulny HO, Abadie V, Feillet F, De Parscau L. Management of phenylketonuria and hyperphenylalaninemia. J Nutr 2007; 137: 1561S-1563S.
16. Schweitzer-Krantz S, Burgard P. Survey of national guidelines for the treatment of phenylketonuria. Eur J Pediatr 2000; 159 (Supl. 2): S70-S73.
17. Pérez-Dueñas B, Vilaseca MA, Mas A et al. Tetrahydrobiopterin responsiveness in patients with phenylketonuria. Clin Biochem 2004; 37: 1083-1090.
18. Pietz J, Benninger C, Schmidt H, Scheffner D, Bickel H Longterm development of intelligence (IQ) and EEG in 34 children with phenylketonuria treated early. Eur J Pediatr 1988; 147: 361-367.
19. Vilaseca MA, Campistol J, Cambra FJ, Lambruschini N. Index of dietary control of PKU patients. Quím Clin 1995; 14: 271.
20. Wendel U, Ullrich K, Schmidt H, Batzler U. Six-year follow-up of phenylalanine intakes and plasma phenylalanine concentrations. Eur J Pediatr 1990; 149 [Supl. 1]: S13-S16.
21. Gassió R, Campistol J, Vilaseca MA, Lambruschini N, Cambra FJ, Fusté E. Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet? Acta Paediatr 2003: 92: 1-6.
22. Walter JH, White FJ, Hall SK et al. How practical are recommendations for dietary control in phenylketonuria? Lancet 2002; 360: 55-57.
23. Burgard P, Schmidt E, Rupp A, Schneider W, Bremer HJ. Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria. Eur J Pediatr 1996; 155 (Supl. 1): S33-S38.
24. Gassio R, Fusté E, López A, Artuch R, Vilaseca MA, Campistol J. School performance in early and continuously treated phenylketonuria. Pediatr Neurol 2005; 33: 267-271.
25. Pérez-Dueñas B, Pujol J, Soriano-Mas C et al. Global and regional volume changes in the brains of patients with phenylketonuria. Neurology 2006; 66: 1074-1078