Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU

Journal of Inherited Metabolic Disease

Volumn 32, Issue 1, 2009, Pages 27-31

  van Spronsen, F J ^a   Rijn, M ^a   Dorgelo, B ^a   Hoeksma, M ^a   Bosch, A M ^b   Mulder, M F ^c   de Klerk, J B C ^d   de Koning, T ^e   Rubio Gozalbo, M Estela ^f   de Vries, M ^g   Verkerk, P H ^h  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h TNO   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE;

AGE DISTRIBUTION; AMINO ACID BLOOD LEVEL; ARTICLE; BODY WEIGHT; CHILD; HUMAN; MAJOR CLINICAL STUDY; METABOLIC REGULATION; NETHERLANDS; NUTRITIONAL TOLERANCE; PHENYLKETONURIA; PROGNOSIS; PROTEIN INTAKE; RELIABILITY; SENSITIVITY ANALYSIS;

AGE FACTORS; CHILD; CHILD, PRESCHOOL; DRUG TOLERANCE; FOLLOW-UP STUDIES; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PROGNOSIS;

EID: 59749086069     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0937-3     Document Type: Article

References (18)

1. Burgard P, Rupp A, Konecki DS, Trefz FK, Schmidt H, Lichter-Konecki U (1996) Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria. Eur J Pediatr 155(Supplement 1): S11-S15. doi: 10.1007/ PL00014222.
2. Burton BK, Grange DK, Milanowski A, et al (2007) The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): A phase II, multicentre, open-label, screening study. J Inherit Metab Dis 30: 700-707. doi: 10.1007/s10545-007-0605-z.
3. Crone MR, van Spronsen FJ, Oudshoorn K, Bekhof J, van Rijn G, Verkerk PH (2005) Behavioural factors related to metabolic control in patients with phenylketonuria. J Inherit Metab Dis 28: 627-637. doi: 10.1007/ s10545-005-0014-0.
4. Goris AH, Westerterp KR (2000) Improved reporting of habitual food intake after confrontation with earlier results on food reporting. Br J Nutr 83: 363-369.
5. Guldberg P, Rey F, Zschocke J, et al (1998) 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 63: 71-79. doi: 10.1086/301920.
6. Güttler F (1980) Hyperphenylalaninemia: Diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr Scand Suppl 280: 1-80.
7. Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR (1997) Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: A metanalysis of genotype-phenotype correlations. Am J Hum Genet 61: 1309-1317. doi: 10.1086/301638.
8. Levy HL, Milanowski A, Chakrapani A, et al (2007) Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: A phase III randomised placebo-controlled study. Lancet 370: 504-510. doi: 10.1016/S0140-6736(07)61234-3.
9. Lichter-Konecki U, Rupp A, Konecki DS, Trefz FK, Schmidt H, Burgard P (1994) Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders. German Collaborative Study of PKU. J Inherit Metab Dis 17: 362-365. doi: 10.1007/BF00711831.
10. MacDonald A, Rylance G, Hall SK, Asplin D, Booth IW (1996) Factors affecting the variation in plasma phenylalanine in patients with phenylketonuria on diet. Arch Dis Child 74: 412-417.
11. Medical Research Council (1993) Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria. Arch Dis Child 68: 426-427.
12. Rey F, Blandin-Savoja F, Rey J (1979) Kinetics of phenylalanine disappearance after intravenous load in phenylketonuria and its genetic variants. Pediatr Res 13: 21-25. doi: 10.1203/00006450-197901000-00005.
13. Sarkissian CN, Gamez A (2005) Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now? Mol Genet Metab 86(Supplement 1): S22-S26. doi: 10.1016/j.ymgme.2005.06.016.
14. Stemerdink BA, Kalverboer AF, van der Meere JJ, et al (2000) Behaviour and school achievement in patients with early and continuously treated phenylketonuria. J Inherit Metab Dis 23: 548-562. doi: 10.1023/ A:1005669610722.
15. 13C]phenylalanine oxidation rates in vivo: A pilot study. Pediatr Res 42: 430-435. doi: 10.1203/00006450-199710000-00002.
16. Trefz FK, Batzler U, Konig T, et al (1990) Significance of the in vivo deuterated phenylalanine load for long-term phenylalanine tolerance and psycho-intellectual outcome in patients with PKU. Eur J Pediatr 149(Supplement 1): S25-S27. doi: 10.1007/BF02126295.
17. Verkerk PH, Vaandrager GJ, Sengers RC (1990) 15 years of national screening for phenylketonuria in The Netherlands; 4th Report of the National Commission for Management of Phenylketonuria. Ned Tijdschr Geneeskd 134: 2533-2536.
18. Walter JH, White FJ (2004) Blood phenylalanine control in adolescents with phenylketonuria. Int J Adolesc Med Health 16: 41-45.