Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria

Journal of Paediatrics and Child Health

Volumn 42, Issue 9, 2006, Pages 496-498

  Boneh, Avihu ^a,b   Francis, Dorothy E M ^a   Humphrey, Maureen ^a   Upton, Helen J ^a   Peters, Heidi L ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Hyperphenylalaninaemia; Phenylketonuria; Tetrahydrobiopterin

Indexed keywords

PHENYLALANINE; PYRUVOYLTETRAHYDROBIOPTERIN SYNTHASE; SYNTHETASE; TETRAHYDROBIOPTERIN; UNCLASSIFIED DRUG;

AMINO ACID METABOLISM; AUSTRALIA; DISEASE SEVERITY; ENZYME DEFICIENCY; HUMAN; HYPERPHENYLALANINEMIA; LIFESTYLE; MAJOR CLINICAL STUDY; MEDICAL RECORD; NEWBORN; NEWBORN SCREENING; PHENYLKETONURIA; PREVALENCE; PRIORITY JOURNAL; PROTEIN RESTRICTION; PYRUVOYLTETRAHYDROBIOPTERIN SYNTHASE DEFICIENCY; QUALITY OF LIFE; REVIEW;

BIOPTERIN; COMBINED MODALITY THERAPY; DIET, PROTEIN-RESTRICTED; HUMANS; INFANT FORMULA; INFANT, NEWBORN; NEONATAL SCREENING; PHENYLALANINE; PHENYLKETONURIAS; PREVALENCE; RETROSPECTIVE STUDIES; VICTORIA;

EID: 33747383079     PISSN: 10344810     EISSN: 14401754     Source Type: Journal    
DOI: 10.1111/j.1440-1754.2006.00909.x     Document Type: Review

References (20)

1. Fölling A. Uber Ausscheidung von Phenylbrenztraubensaure in den harn als Stoffwechselanomalie in verbindung mit imbezillitat. Hoppe-Seyler's Z Physiol. Chem. 1934; 277: 169-76.
2. Bickel H, Gerrard J, Hickmans EM. Influence of phenylalanine intake on phenylketonuria. Lancet 1953; 265: 812-13.
3. Scriver CR, Waters PJ. Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet. 1999; 15: 267-72.
4. Weglage J, Moller HE, Wiedermann D, Cipcic-Schmidt S, Zschocke J, Ullrich K. In vivo NMR spectroscopy in patients with phenylketonuria: clinical significance of interindividual differences in brain phenylalanine concentrations. J. Inherit. Metab. Dis. 1998; 21: 81-2.
5. Weglage J, Wiedermann D, Denecke J et al. Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria. Ann. Neurol. 2001; 50: 463-7.
6. Moller HE, Weglage J, Bick U, Wiedermann D, Feldmann R, Ullrich K. Brain imaging and proton magnetic resonance spectroscopy in patients with phenylketonuria. Pediatrics 2003; 112: 1580-3.
7. Leuzzi V, Bianchi MC, Tosetti M, Carducci CL, Carducci CA, Antonozzi I. Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria. J. Inherit. Metab. Dis. 2000; 23: 563-70.
8. Kure S, Hou DC, Ohura T et al. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J. Pediatr. 1999; 135: 375-8.
9. Spaapen LJ, Bakker JA, Velter C et al. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates. J. Inherit. Metab. Dis. 2001; 24: 352-8.
10. Muntau AC, Roschinger W, Habich M et al. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N. Engl. J. Med. 2002; 347: 2122-32.
11. Bernegger C, Blau N. High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 To 2002. Mol. Genet. Metab. 2002; 77: 304-13.
12. Blau N, Scriver CR. New approaches to treat PKU: how far are we? Mol. Genet. Metab. 2004; 81: 1-2.
13. Danks DM, Cotton RG, Schlesinger P. Letter: tetrahydrobiopterin treatment of variant form of phenylketonuria. Lancet 1975; 2: 1043.
14. Danks DM, Cotton RG, Schlesinger P. Letter: variant forms of phenylketonuria. Lancet 1976; 1: 1236-7.
15. Blau N, Trefz FK. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation. Mol. Genet. Metab. 2002; 75: 186-7.
16. Thony B, Ding Z, Martinez A. Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia. FEBS Lett. 2004; 577: 507-11.
17. Kure S, Sato K, Fujii K et al. Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol. Genet. Metab. 2004; 83: 150-6.
18. Desviat LR, Perez B, Belanger-Quintana A et al. Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype. Mol. Genet. Metab. 2004; 83: 157-62.
19. Steinfeld R, Kohlschutter A, Ullrich K, Lukacs Z. Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria. J. Inherit. Metab. Dis. 2004; 27: 449-53.
20. Walter JH, White FJ, Hall SK et al. How practical are recommendations for dietary control in phenylketonuria? Lancet 2002; 360: 55-7.