PKU dietary handbook to accompany PKU guidelines.
Diet
Guidelines
PKU
Phenylketonuria
Recommendations
Treatment
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
30 06 2020
30 06 2020
Historique:
received:
09
09
2019
accepted:
04
05
2020
entrez:
2
7
2020
pubmed:
2
7
2020
medline:
22
6
2021
Statut:
epublish
Résumé
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. In 2017 the first European PKU Guidelines were published. These guidelines contained evidence based and/or expert opinion recommendations regarding diagnosis, treatment and care for patients with PKU of all ages. This manuscript is a supplement containing the practical application of the dietary treatment. This handbook can support dietitians, nutritionists and physicians in starting, adjusting and maintaining dietary treatment.
Sections du résumé
BACKGROUND
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.
MAIN BODY
In 2017 the first European PKU Guidelines were published. These guidelines contained evidence based and/or expert opinion recommendations regarding diagnosis, treatment and care for patients with PKU of all ages. This manuscript is a supplement containing the practical application of the dietary treatment.
CONCLUSION
This handbook can support dietitians, nutritionists and physicians in starting, adjusting and maintaining dietary treatment.
Identifiants
pubmed: 32605583
doi: 10.1186/s13023-020-01391-y
pii: 10.1186/s13023-020-01391-y
pmc: PMC7329487
doi:
Substances chimiques
Tyrosine
42HK56048U
Phenylalanine
47E5O17Y3R
Phenylalanine Hydroxylase
EC 1.14.16.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
171Commentaires et corrections
Type : ErratumIn
Références
Mol Genet Metab Rep. 2018 Aug 08;16:82-89
pubmed: 30101073
J Hum Nutr Diet. 2018 Jun;31(3):349-356
pubmed: 28940742
Nutrients. 2019 Feb 28;11(3):
pubmed: 30823463
Nutrients. 2018 Nov 18;10(11):
pubmed: 30453665
JIMD Rep. 2017;34:87-96
pubmed: 27718212
Mol Genet Metab Rep. 2018 Nov 25;18:39-44
pubmed: 30705824
Mol Genet Metab. 2009 Dec;98(4):331-7
pubmed: 19747868
Eur J Pediatr. 2003 May;162(5):323-6
pubmed: 12692713
J Hum Nutr Diet. 2017 Aug;30(4):515-523
pubmed: 28111827
Med Clin North Am. 2016 Nov;100(6):1199-1215
pubmed: 27745590
J Inherit Metab Dis. 2020 Mar;43(2):244-250
pubmed: 31503351
Acta Paediatr Suppl. 1999 Dec;88(432):25-7
pubmed: 10626572
J Nutr. 2015 Jun;145(6):1311-6
pubmed: 25878204
J Hum Nutr Diet. 2016 Aug;29(4):427-33
pubmed: 26510709
J Inherit Metab Dis. 2003;26(4):319-26
pubmed: 12971419
Mol Genet Metab Rep. 2015 Oct 22;5:55-59
pubmed: 28649544
Orphanet J Rare Dis. 2019 Jan 3;14(1):2
pubmed: 30606267
J Pediatr Endocrinol Metab. 2019 Jun 26;32(6):635-641
pubmed: 31112507
Ann Nutr Metab. 2011;58(2):94-100
pubmed: 21474926
Arch Dis Child. 2006 Jul;91(7):588-93
pubmed: 16547085
Mol Genet Metab. 2019 May;127(1):1-11
pubmed: 31103398
Appetite. 2013 Jan;60(1):85-94
pubmed: 23017468
Metabolism. 1953 Jul;2(4):354-61
pubmed: 13071677
J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):299-303
pubmed: 16763891
Nutrients. 2019 Feb 28;11(3):
pubmed: 30823411
Mol Genet Metab Rep. 2017 Oct 31;14:10-14
pubmed: 29124015
Orphanet J Rare Dis. 2017 Oct 12;12(1):162
pubmed: 29025426
J Hum Nutr Diet. 2006 Jun;19(3):229-36
pubmed: 16756538
J Inherit Metab Dis. 2012 Nov;35(6):993-9
pubmed: 22669364
J Inherit Metab Dis. 2007 Apr;30(2):198-201
pubmed: 17351826
World Health Organ Tech Rep Ser. 2007;(935):1-265, back cover
pubmed: 18330140
Mol Genet Metab. 2015 May;115(1):17-22
pubmed: 25862610