Total choline intake and working memory performance in adults with phenylketonuria.
Choline
Diet
Executive function
PKU
Phenylketonuria
Working memory
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:
29 07 2023
29 07 2023
Historique:
received:
05
05
2023
accepted:
21
07
2023
medline:
31
7
2023
pubmed:
30
7
2023
entrez:
29
7
2023
Statut:
epublish
Résumé
Despite early diagnosis and compliance with phenylalanine (Phe)-restricted diets, many individuals with phenylketonuria (PKU) still exhibit neurological changes and experience deficits in working memory and other executive functions. Suboptimal choline intake may contribute to these impairments, but this relationship has not been previously investigated in PKU. The objective of this study was to determine if choline intake is correlated with working memory performance, and if this relationship is modified by diagnosis and metabolic control. This was a cross-sectional study that included 40 adults with PKU and 40 demographically matched healthy adults. Web-based neurocognitive tests were used to assess working memory performance and 3-day dietary records were collected to evaluate nutrient intake. Recent and historical blood Phe concentrations were collected as measures of metabolic control. Working memory performance was 0.32 z-scores (95% CI 0.06, 0.58) lower, on average, in participants with PKU compared to participants without PKU, and this difference was not modified by total choline intake (F[1,75] = 0.85, p = 0.36). However, in a subgroup with complete historical blood Phe data, increased total choline intake was related to improved working memory outcomes among participants with well controlled PKU (Phe = 360 µmol/L) after adjusting for intellectual ability and mid-childhood Phe concentrations (average change in working memory per 100 mg change in choline = 0.11; 95% CI 0.02, 0.20; p = 0.02). There also was a trend, albeit nonsignificant (p = 0.10), for this association to be attenuated with increased Phe concentrations. Clinical monitoring of choline intake is essential for all individuals with PKU but may have important implications for working memory functioning among patients with good metabolic control. Results from this study should be confirmed in a larger controlled trial in people living with PKU.
Sections du résumé
BACKGROUND
Despite early diagnosis and compliance with phenylalanine (Phe)-restricted diets, many individuals with phenylketonuria (PKU) still exhibit neurological changes and experience deficits in working memory and other executive functions. Suboptimal choline intake may contribute to these impairments, but this relationship has not been previously investigated in PKU. The objective of this study was to determine if choline intake is correlated with working memory performance, and if this relationship is modified by diagnosis and metabolic control.
METHODS
This was a cross-sectional study that included 40 adults with PKU and 40 demographically matched healthy adults. Web-based neurocognitive tests were used to assess working memory performance and 3-day dietary records were collected to evaluate nutrient intake. Recent and historical blood Phe concentrations were collected as measures of metabolic control.
RESULTS
Working memory performance was 0.32 z-scores (95% CI 0.06, 0.58) lower, on average, in participants with PKU compared to participants without PKU, and this difference was not modified by total choline intake (F[1,75] = 0.85, p = 0.36). However, in a subgroup with complete historical blood Phe data, increased total choline intake was related to improved working memory outcomes among participants with well controlled PKU (Phe = 360 µmol/L) after adjusting for intellectual ability and mid-childhood Phe concentrations (average change in working memory per 100 mg change in choline = 0.11; 95% CI 0.02, 0.20; p = 0.02). There also was a trend, albeit nonsignificant (p = 0.10), for this association to be attenuated with increased Phe concentrations.
CONCLUSIONS
Clinical monitoring of choline intake is essential for all individuals with PKU but may have important implications for working memory functioning among patients with good metabolic control. Results from this study should be confirmed in a larger controlled trial in people living with PKU.
Identifiants
pubmed: 37516884
doi: 10.1186/s13023-023-02842-y
pii: 10.1186/s13023-023-02842-y
pmc: PMC10386684
doi:
Substances chimiques
Choline
N91BDP6H0X
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
222Informations de copyright
© 2023. The Author(s).
Références
Neurosci Biobehav Rev. 2006;30(5):696-712
pubmed: 16504295
Mol Genet Metab. 2014 Jun;112(2):87-122
pubmed: 24667081
Orphanet J Rare Dis. 2018 Aug 30;13(1):150
pubmed: 30165883
Mol Genet Metab. 2010;99 Suppl 1:S33-40
pubmed: 20123468
Pharmacol Biochem Behav. 2015 Apr;131:119-29
pubmed: 25681529
Prev Med. 2016 Mar;84:83-9
pubmed: 26740348
Mol Genet Metab. 2010;99 Suppl 1:S3-9
pubmed: 20123467
Neuropsychology. 2004 Oct;18(4):613-20
pubmed: 15506828
Exp Mol Pathol. 2010 Feb;88(1):143-9
pubmed: 19913531
Nutr Today. 2007;42(4):181-186
pubmed: 18716669
Am J Epidemiol. 1986 Jul;124(1):17-27
pubmed: 3521261
J Am Coll Nutr. 2004 Dec;23(6 Suppl):621S-626S
pubmed: 15640516
PLoS One. 2019 Mar 15;14(3):e0213391
pubmed: 30875376
Cancer Chemother Pharmacol. 2007 Feb;59(2):217-25
pubmed: 16738884
Anal Bioanal Chem. 2015 Nov;407(29):8825-33
pubmed: 26410738
Br J Nutr. 2013 Feb 14;109(3):511-9
pubmed: 22717142
Am J Epidemiol. 2013 Jun 15;177(12):1338-47
pubmed: 23425631
Nutr Neurosci. 2023 May;26(5):456-469
pubmed: 35343878
Clin Chem Lab Med. 2005;43(10):1069-75
pubmed: 16197300
Metab Brain Dis. 2018 Oct;33(5):1609-1615
pubmed: 29948654
J Inherit Metab Dis. 2021 Nov;44(6):1353-1368
pubmed: 34145605
Br J Nutr. 2013 Jul 28;110(2):330-6
pubmed: 23298754
Nutr Today. 2018 Nov-Dec;53(6):240-253
pubmed: 30853718
Am J Clin Nutr. 2007 May;85(5):1275-85
pubmed: 17490963
J Clin Exp Neuropsychol. 2007 May;29(4):436-41
pubmed: 17497567
Genet Med. 2014 Feb;16(2):188-200
pubmed: 24385074
Annu Rev Nutr. 1981;1:95-121
pubmed: 6764726
Mol Genet Metab. 2010;99 Suppl 1:S22-32
pubmed: 20123466
Mol Genet Metab. 2011 Feb;102(2):210-3
pubmed: 21035369
Nutrients. 2016 Mar 26;8(4):185
pubmed: 27102170
Clin Chem Lab Med. 2013 Mar 1;51(3):513-21
pubmed: 23314552
J Inherit Metab Dis. 2012 Sep;35(5):807-16
pubmed: 22231384
Orphanet J Rare Dis. 2018 Jun 26;13(1):101
pubmed: 29941009
J Med Internet Res. 2020 Aug 4;22(8):e16792
pubmed: 32749999
Nutrients. 2022 Sep 29;14(19):
pubmed: 36235708
Nutrients. 2017 Aug 05;9(8):
pubmed: 28783055
Am J Clin Nutr. 2010 Nov;92(5):1113-9
pubmed: 20861172
Am J Clin Nutr. 2022 Mar 4;115(3):811-821
pubmed: 34864852
Am J Clin Nutr. 2011 Dec;94(6):1584-91
pubmed: 22071706
FASEB J. 2006 Jul;20(9):1336-44
pubmed: 16816108
Clin Chem Lab Med. 2013 Mar 1;51(3):467-75
pubmed: 23072856
Neuropsychol Rev. 2007 Jun;17(2):91-101
pubmed: 17410469
Mol Genet Metab. 2016 May;118(1):3-8
pubmed: 26947918
Physiol Behav. 2019 Sep 1;208:112578
pubmed: 31194997
Dev Neuropsychol. 2008;33(4):474-504
pubmed: 18568900
Neuropsychology. 2021 Oct;35(7):731-741
pubmed: 34323564
Semin Pediatr Neurol. 2016 Nov;23(4):332-340
pubmed: 28284394
J Inherit Metab Dis. 2004;27(5):549-66
pubmed: 15669671
J Am Coll Nutr. 2016;35(2):108-12
pubmed: 26886842
Brain. 2015 Feb;138(Pt 2):398-413
pubmed: 25524711
Front Psychiatry. 2019 Sep 10;10:561
pubmed: 31551819
Mol Genet Metab. 2022 Nov;137(3):249-256
pubmed: 36209659
J Med Genet. 2020 Mar;57(3):145-150
pubmed: 31484718
Nutrients. 2018 Oct 16;10(10):
pubmed: 30332744
Nutrients. 2017 Jul 28;9(8):
pubmed: 28788094
Orphanet J Rare Dis. 2019 Nov 28;14(1):273
pubmed: 31779649
Lancet. 2010 Oct 23;376(9750):1417-27
pubmed: 20971365
Dev Neuropsychol. 2016 May-Jun;41(4):245-260
pubmed: 27805419
Neuron. 2012 Oct 4;76(1):116-29
pubmed: 23040810