The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic centers

References

• Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet. 2010;376(9750):1417–1427.
   PubMed Web of Science ®Google Scholar
• Muntau AC, Adams DJ, Bélanger-Quintana A, et al. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria. Mol Genet Metab. 2019;127(1):1–11.
   PubMed Web of Science ®Google Scholar
• van Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12(1):162.
   PubMed Web of Science ®Google Scholar
• Danecka MK, Woidy M, Zschocke J, et al. Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria. J Med Genet. 2015;52(3):175–185.
   PubMed Web of Science ®Google Scholar
• MacLeod EL, Ney DM. Nutritional management of phenylketonuria. Ann Nestle Eng. 2010;68(2):58–69.
   PubMedGoogle Scholar
• Burlina AP, Cazzorla C, Massa P, et al. The impact of a slow-release large neutral amino acids supplement on treatment adherence in adult patients with phenylketonuria. Nutrients. 2020;12(7):2078.
   PubMed Web of Science ®Google Scholar
• Vockley J, Andersson HC, Antshel KM, et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med. 2014;16(2):188–200.
   PubMed Web of Science ®Google Scholar
• Cazzorla C, Bensi G, Biasucci G, et al. Living with phenylketonuria in adulthood: the PKU ATTITUDE study. Mol Genet Metab Rep. 2018;16:39–45.
   PubMed Web of Science ®Google Scholar
• Blau N, Belanger-Quintana A, Demirkol M, et al. Management of phenylketonuria in Europe: survey results from 19 countries. Mol Genet Metab. 2010;99(2):109–115.
   PubMed Web of Science ®Google Scholar
• Pilotto A, Blau N, Leks E, et al. Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria. J Inherit Metab Dis. 2019;42(3):398–406.
   PubMed Web of Science ®Google Scholar
• Jurecki ER, Cederbaum S, Kopesky J, et al. Adherence to clinic recommendations among patients with phenylketonuria in the United States. Mol Genet Metab. 2017;120(3):190–197.
   PubMed Web of Science ®Google Scholar
• Crujeiras V, Aldámiz-Echevarría L, Dalmau J, et al. Vitamin and mineral status in patients with hyperphenylalaninemia. Mol Genet Metab. 2015;115(4):145–150.
   PubMed Web of Science ®Google Scholar
• Procházková D, Jarkovský J, Vinohradská H, et al. Controlled diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients: the Czech experience. Biol Trace Elem Res. 2013;154(2):178–184.
   PubMed Web of Science ®Google Scholar
• MacDonald A, Nanuwa K, Parkes L, et al. Retrospective, observational data collection of the treatment of phenylketonuria in the UK, and associated clinical and health outcomes. Curr Med Res Opin. 2011;27(6):1211–1222.
   PubMed Web of Science ®Google Scholar
• Vilaseca MA, Lambruschini N, Gómez-López L, et al. Quality of dietary control in phenylketonuric patients and its relationship with general intelligence. Nutr Hosp. 2010;25(1):60–66.
   PubMed Web of Science ®Google Scholar
• Gokmen-Ozel H, MacDonald A, Daly A, et al. Long-term efficacy of ‘ready-to-drink’ protein substitute in phenylketonuria. J Hum Nutr Diet. 2009;22(5):422–427.
   PubMed Web of Science ®Google Scholar
• Romani C, Palermo L, MacDonald A, et al. The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: effects across tasks and developmental stages. Neuropsychology. 2017;31(3):242–254.
   PubMed Web of Science ®Google Scholar
• Pietz J, Landwehr R, Kutscha A, et al. Effect of high-dose tyrosine supplementation on brain function in adults with phenylketonuria. J Pediatr. 1995;127(6):936–943.
   PubMed Web of Science ®Google Scholar
• Pietz J, Dunckelmann R, Rupp A, et al. Neurological outcome in adult patients with early-treated phenylketonuria. Eur J Pediatr. 1998;157(10):824–830.
   PubMed Web of Science ®Google Scholar
• Huijbregts SCJ, Bosch AM, Simons QA, et al. The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: a PKU-COBESO study. Mol Genet Metab. 2018;125(1–2):96–103.
   PubMed Web of Science ®Google Scholar
• Camfield CS, Joseph M, Hurley T, et al. Optimal management of phenylketonuria: a centralized expert team is more successful than a decentralized model of care. J Pediatr. 2004;145(1):53–57.
   PubMed Web of Science ®Google Scholar
• van Spronsen FJ, van Wegberg AM, Ahring K, et al. Key European guidelines for the diagnosis and management of patients with phenylketonuria. Lancet Diabetes Endocrinol. 2017;5(9):743–756.
   PubMed Web of Science ®Google Scholar
• Rocha JC, MacDonald A. Dietary intervention in the management of phenylketonuria: current perspectives. Pediatric Health Med Ther. 2016;7:155–163.
   PubMed Web of Science ®Google Scholar
• Blau N, Hennermann JB, Langenbeck U, et al. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol Genet Metab. 2011;104:S2–S9.
   PubMed Web of Science ®Google Scholar
• Jahja R, van Spronsen FJ, de Sonneville LMJ, et al. Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study. J Inherit Metab Dis. 2016;39(3):355–362.
   PubMed Web of Science ®Google Scholar
• Mütze U, Roth A, Weigel JFW, et al. Transition of young adults with phenylketonuria from pediatric to adult care. J Inherit Metab Dis. 2011;34(3):701–709.
   PubMed Web of Science ®Google Scholar
• Prick BW, Hop WCJ, Duvekot JJ. Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. Am J Clin Nutr. 2012;95(2):374–382.
   PubMed Web of Science ®Google Scholar
• Strisciuglio P, Concolino D. New strategies for the treatment of phenylketonuria (PKU). Metabolites. 2014;4(4):1007–1017.
   PubMedGoogle Scholar
• Borghi L, Moreschi C, Toscano A, et al. The PKU & ME study: a qualitative exploration, through co-creative sessions, of attitudes and experience of the disease among adults with phenylketonuria in Italy. Mol Genet Metab Rep. 2020;23:100585.
   PubMed Web of Science ®Google Scholar
• Zori R, Ahring K, Burton B, et al. Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria. Mol Genet Metab. 2019;128(1–2):92–101.
   PubMed Web of Science ®Google Scholar