[Phenylketonuria, from diet to gene therapy].
La phénylcétonurie - De la diététique à la thérapie génique.
Journal
Medecine sciences : M/S
ISSN: 1958-5381
Titre abrégé: Med Sci (Paris)
Pays: France
ID NLM: 8710980
Informations de publication
Date de publication:
Historique:
entrez:
22
8
2020
pubmed:
22
8
2020
medline:
10
10
2020
Statut:
ppublish
Résumé
The prognosis for phenylketonuria (PKU) has been improved by neonatal screening and dietary management via a low-phenylalanine diet. This treatment must be followed throughout life, which induces severe compliance problems. Drug treatment with sapropterin (or BH4) has come to help a reduced percentage of patients who respond to this drug. A subcutaneous enzyme therapy is available in the USA and has obtained European marketing authorization, but generates significant side effects, which limits its effectiveness. New therapeutic options for PKU are currently being developed, in particular gene therapy. The purpose of this article is to take stock of the pathophysiology and the various new therapeutic modalities currently in development. La phénylcétonurie - De la diététique à la thérapie génique. Le pronostic de la phénylcétonurie (PCU) a été transformé par le dépistage néonatal et la prise en charge diététique via un apport contrôlé en phénylalanine. Ce traitement doit être suivi toute la vie durant, ce qui pose des problèmes de compliances importants. Un traitement médicamenteux par saproptérine (ou BH4) est venu apporter une aide à un pourcentage réduit de patients qui répondent à ce médicament. Une enzymothérapie par voie sous-cutanée est disponible aux États-Unis et a obtenue une AMM européenne, mais génère des effets secondaires importants, ce qui en limite l’efficacité. De nouvelles options thérapeutiques de la PCU sont actuellement en développement, en particulier par thérapie génique. Le but de cet article est de faire le point sur la physiopathologie et sur les différentes nouvelles modalités thérapeutiques actuellement en développement.
Autres résumés
Type: Publisher
(fre)
La phénylcétonurie - De la diététique à la thérapie génique.
Identifiants
pubmed: 32821049
doi: 10.1051/medsci/2020127
pii: msc200089
doi:
Substances chimiques
Biopterins
0
sapropterin
EGX657432I
Types de publication
Journal Article
Review
Langues
fre
Sous-ensembles de citation
IM
Pagination
725-734Informations de copyright
© 2020 médecine/sciences – Inserm.
Références
Folling I.. The discovery of phenylketonuria. Acta Paediatrica 1994 ; 407 : suppl 4–10.
Bickel H.. Diagnosis and therapy of galactosemia and phenylketonuria. Monatsschrift Kinderheilkunde 1955 ; 103 : 81–84.
Woo SL, Lidsky AS, Guttler F, et al. Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature 1983 ; 306 : 151–155.
Danks DM, Cotton RG, Schlesinger P. Letter. Tetrahydrobiopterin treatment of variant form of phenylketonuria. Lancet 1975 ; 2 : 1043.
Anikster Y, Haack TB, Vilboux T, et al. Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability. Am J Hum Genet 2017 ; 100 : 257–266.
Van Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines on phenylketonuria : diagnosis and treatment. Orphanet J Rare Dis 2017 ; 12 : 162.
Abadie V, Berthelot J, Feillet F, et al. Neonatal screening and long-term follow-up of phenylketonuria : the French database. Early Hum Dev 2001 ; 65 : 149–158.
Muntau AC, Roschinger W, Habich M, et al. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med 2002 ; 347 : 2122–2132.
Hegge KA, Horning KK, Peitz GJ, Hegge K. Sapropterin: a new therapeutic agent for phenylketonuria. Ann Pharmacother 2009 ; 43 : 1466–1473.
Jung-Klawitter S, Hubschmann OK. Analysis of catecholamines and pterins in inborn errors of monoamine neurotransmitter metabolism-from past to future. Cells 2019; 8.
Abadie V, Rey F, Plainguet F, Rey J. Intellectual development after relaxing the diet at the age of 5 years in typical phenylketonuria. Arch Fr Pediatr 1992 ; 49 : 773–778.
Camp KM, Parisi MA, Acosta PB, et al. Phenylketonuria scientific review conference : state of the science and future research needs. Mol Genet Metab 2014 ; 112 : 87–122.
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 : 743–756.
Zurfluh MR, Zschocke J, Lindner M, et al. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mutat 2008 ; 29 : 167–175.
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 : 175–185.
Jeannesson-Thivisol E, Feillet F, Chery C, et al. Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness. Orphanet J Rare Dis 2015 ; 10 : 158.
Muntau AC, Adams DJ, Belanger-Quintana A, et al. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria. Mol Genet Metab 2019 ; 127 : 1–11.
Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol Genet Metab 2011 ; 104 : suppl S2–S9.
Oussalah A, Jeannesson-Thivisol E, Chery C, et al. Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria : results from a multiethnic study. EBioMedicine 2020; 51 : 102623.
Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet 2010 ; 376 : 1417–1427.
Cederbaum SD. Diagnosis and management of malignant hyperphenylalaninemia. N Engl J Med 1979 ; 301 : 441–442.
Feillet F, van Spronsen FJ, MacDonald A, et al. Challenges and pitfalls in the management of phenylketonuria. Pediatrics 2010 ; 126 : 333–341.
Gonzalez MJ, Gassio R, Artuch R, Campistol J. Impaired neurotransmission in early-treated phenylketonuria patients. Semin Pediatr Neurol 2016 ; 23 : 332–340.
Waisbren SE, Noel K, Fahrbach K, et al. Phenylalanine blood levels and clinical outcomes in phenylketonuria : a systematic literature review and meta-analysis. Mol Genet Metab 2007 ; 92 : 63–70.
Waisbren SE, Brown MJ, de Sonneville LM, Levy HL. Review of neuropsychological functioning in treated phenylketonuria : an information processing approach. Acta Paediatrica 1994 ; 407 : suppl 98–103.
Jahja R, Huijbregts SCJ, de Sonneville LMJ, et al. Cognitive profile and mental health in adult phenylketonuria: a PKU-COBESO study. Neuropsychology 2017 ; 31 : 437–447.
Rubin S, Piffer AL, Rougier MB, et al. Sight-threatening phenylketonuric encephalopathy in a young adult, reversed by diet. JIMD Rep 2013 ; 10 : 83–85.
Grisch-Chan HM, Schwank G, Harding CO, Thony B. State-of-the-art 2019 on gene therapy for phenylketonuria. Hum Gene Ther 2019 ; 30 : 1274–1283.
Rouse B, Azen C, Koch R, et al. Maternal phenylketonuria collaborative study (MPKUCS) offspring: facial anomalies, malformations, and early neurological sequelae. Am J Med Genet 1997 ; 69 : 89–95.
Feillet F, Abadie V, Berthelot J, et al. Maternal phenylketonuria: the French survey. Eur J Pediatr 2004 ; 163 : 540–546.
Pena MJ, Pinto A, Daly A, et al. The use of glycomacropeptide in patients with phenylketonuria: a systematic review and meta-analysis. Nutrients 2018; 10.
Daly A, Evans S, Chahal S, et al. Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU. Orphanet J Rare Dis 2019 ; 14 : 44.
Boado RJ, Li JY, Wise P, Pardridge WM. Human LAT1 single nucleotide polymorphism N230K does not alter phenylalanine transport. Mol Genet Metab 2004 ; 83 : 306–311.
Van Spronsen FJ, de Groot MJ, Hoeksma M, et al. Large neutral amino acids in the treatment of PKU: from theory to practice. J Inherit Metab Dis 2010 ; 33 : 671–676.
Thomas J, Levy H, Amato S, et al. Pegvaliase for the treatment of phenylketonuria: results of a long-term phase 3 clinical trial program (PRISM). Mol Genet Metab 2018 ; 124 : 27–38.
Levy HL, Sarkissian CN, Scriver CR. Phenylalanine ammonia lyase (PAL): from discovery to enzyme substitution therapy for phenylketonuria. Mol Genet Metab 2018 ; 124 : 223–229.
Levy HL, Milanowski A, Chakrapani A, et al. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet 2007 ; 370 : 504–510.
Muntau AC, du Moulin M, Feillet F. Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0–4 years of age. Orphanet J Rare Dis 2018 ; 13 : 173.
Feillet F, Muntau AC, Debray FG, et al. Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases. J Inherit Metab Dis 2014 ; 37 : 753–762.
Blau N, Belanger-Quintana A, Demirkol M, et al. Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Mol Genet Metab 2009 ; 96 : 158–163.
Feillet F, Chery C, Namour F, et al. Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia. Early Hum Dev 2008 ; 84 : 561–567.
Lichter-Konecki U, Vockley J. Phenylketonuria: current treatments and future developments. Drugs 2019 ; 79 : 495–500.
Canton M, Gall DL, Feillet F, et al. Neuropsychological profile of children with early and continuously treated phenylketonuria: systematic review and future approaches. J Int Neuropsychol Soc 2019 ; 25 : 624–643.
Anderson PJ, Leuzzi V. White matter pathology in phenylketonuria. Mol Genet Metab 2010 ; 99 : suppl 1 S3–S9.
Gonzalez MJ, Polo MR, Ripolles P, et al. White matter microstructural damage in early treated phenylketonuric patients. Orphanet J Rare Dis 2018 ; 13 : 188.
Adler-Abramovich L, Vaks L, Carny O, et al. Phenylalanine assembly into toxic fibrils suggests amyloid etiology in phenylketonuria. Nat Chem Biol 2012 ; 8 : 701–706.
Kohlschutter B, Ellerbrok M, Merkel M, et al. Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status. J Inherit Metab Dis 2009 ; 32 : suppl 1 S1–S4.