Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire.
AAS, amino acid supplements
Adult
ETPKU, early-treated phenylketonuria
Early treated
GMP, glycomacropeptide
HPA, hyperphenylalaninaemia
HRQoL
HRQoL, health related quality of life
Health related quality of life
IQR, interquartile range
PKU
PKU, phenylketonuria
PKU-QoL, Phenylketonuria Quality of Life questionnaires
Phe, phenylalanine
Phenylketonuria
SD, standard deviation
Tyr, tyrosine
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
received:
24
02
2020
revised:
12
04
2020
accepted:
13
04
2020
entrez:
30
4
2020
pubmed:
30
4
2020
medline:
30
4
2020
Statut:
epublish
Résumé
The implementation of neonatal screening and the early initiation of lifelong therapy have helped to prevent severe complications and enabled much more favorable outcomes for early-treated phenylketonuria (ETPKU) patients. However, PKU patients tend to develop subtle cognitive and psychosocial abnormalities and the strict dietary therapy can present financial and social burden. Thus, PKU is expected to affect the quality of life (QoL) of these patients. There is insufficient evidence regarding the relationship between metabolic control and Health-Related QoL (HRQoL). We aimed to assess the effect of short- and long-term therapy on QoL among Hungarian adult PKU patients using the standardized PKU-specific PKU-QoL questionnaire.
Sections du résumé
BACKGROUND
BACKGROUND
The implementation of neonatal screening and the early initiation of lifelong therapy have helped to prevent severe complications and enabled much more favorable outcomes for early-treated phenylketonuria (ETPKU) patients. However, PKU patients tend to develop subtle cognitive and psychosocial abnormalities and the strict dietary therapy can present financial and social burden. Thus, PKU is expected to affect the quality of life (QoL) of these patients. There is insufficient evidence regarding the relationship between metabolic control and Health-Related QoL (HRQoL). We aimed to assess the effect of short- and long-term therapy on QoL among Hungarian adult PKU patients using the standardized PKU-specific PKU-QoL questionnaire.
Identifiants
pubmed: 32346514
doi: 10.1016/j.ymgmr.2020.100589
pii: S2214-4269(20)30035-5
pii: 100589
pmc: PMC7183227
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100589Informations de copyright
© 2020 The Authors.
Déclaration de conflit d'intérêts
The authors have no conflict of interest to report.
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