TY - JOUR
T1 - Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study
AU - Demirdas, Serwet
AU - Maurice-Stam, Heleen
AU - Boelen, Carolien C.A.
AU - Hofstede, Floris C.
AU - Janssen, Mirian C.H.
AU - Langendonk, Janneke G.
AU - Mulder, Margot F.
AU - Rubio-Gozalbo, M. Estela
AU - van Spronsen, Francjan J.
AU - de Vries, Maaike
AU - Grootenhuis, Martha A.
AU - Bosch, Annet M.
N1 - Funding Information:
AMB is a member of advisory boards for Danone and for Merck Serono, and has received research funding from Danone. FJS is a member of advisory boards for Danone and for Merck Serono, and has received research funding from Danone and from Merck Serono.
PY - 2013
Y1 - 2013
N2 - Background: Phenylketonuria (PKU) is a rare inborn error of metabolism caused by phenylalanine hydroxylase enzyme (PAH) deficiency. Treatment constitutes a strict Phe restricted diet with unpalatable amino acid supplements. Residual PAH activity enhancement with its cofactor tetrahydrobiopterin (BH4) is a novel treatment which increases dietary tolerance in some patients and permits dietary relaxation. Relaxation of diet may improve health related quality of life (HRQoL). This prospective cohort study aims to evaluate HRQoL of patients with PKU and effects of BH4 treatment on HRQoL. Methods: Patients aged 4. years and older, diagnosed through newborn screening and early and continuously treated, were recruited from eight metabolic centers. Patients and mothers completed validated generic and chronic health-conditions HRQoL questionnaires (PedsQL, TAAQOL, and DISABKIDS) twice: before and after testing BH4 responsivity. Baseline results were compared to the general population. Data collected after BH4 testing was used to find differences in HRQoL between BH4 unresponsive patients and BH4 responsive patients after one year of treatment with BH4. Also a within patient comparison was performed to find differences in HRQoL before and after treatment with BH4. Results: 69/81 (85%) patients completed the questionnaires before BH4 responsivity testing, and 45/69 (65%) participated again after testing. Overall PKU patients demonstrated normal HRQoL. However, some significant differences were found when compared to the general population. A significantly higher (thus better) score on the PedsQL was reported by children 8-12. years on physical functioning and by children 13-17. years on total and psychosocial functioning. Furthermore, adult patients reported significantly lower (thus worse) scores in the TAAQOL cognitive domain. 10 patients proved to be responsive to BH4 treatment; however improvement in their HRQoL after relaxation of diet could not be demonstrated.
AB - Background: Phenylketonuria (PKU) is a rare inborn error of metabolism caused by phenylalanine hydroxylase enzyme (PAH) deficiency. Treatment constitutes a strict Phe restricted diet with unpalatable amino acid supplements. Residual PAH activity enhancement with its cofactor tetrahydrobiopterin (BH4) is a novel treatment which increases dietary tolerance in some patients and permits dietary relaxation. Relaxation of diet may improve health related quality of life (HRQoL). This prospective cohort study aims to evaluate HRQoL of patients with PKU and effects of BH4 treatment on HRQoL. Methods: Patients aged 4. years and older, diagnosed through newborn screening and early and continuously treated, were recruited from eight metabolic centers. Patients and mothers completed validated generic and chronic health-conditions HRQoL questionnaires (PedsQL, TAAQOL, and DISABKIDS) twice: before and after testing BH4 responsivity. Baseline results were compared to the general population. Data collected after BH4 testing was used to find differences in HRQoL between BH4 unresponsive patients and BH4 responsive patients after one year of treatment with BH4. Also a within patient comparison was performed to find differences in HRQoL before and after treatment with BH4. Results: 69/81 (85%) patients completed the questionnaires before BH4 responsivity testing, and 45/69 (65%) participated again after testing. Overall PKU patients demonstrated normal HRQoL. However, some significant differences were found when compared to the general population. A significantly higher (thus better) score on the PedsQL was reported by children 8-12. years on physical functioning and by children 13-17. years on total and psychosocial functioning. Furthermore, adult patients reported significantly lower (thus worse) scores in the TAAQOL cognitive domain. 10 patients proved to be responsive to BH4 treatment; however improvement in their HRQoL after relaxation of diet could not be demonstrated.
KW - Health related quality of life
KW - HRQoL
KW - Phenylketonuria
KW - PKU
KW - QoL
KW - Quality of life
UR - http://www.scopus.com/inward/record.url?scp=84889596324&partnerID=8YFLogxK
U2 - 10.1016/j.ymgme.2013.09.015
DO - 10.1016/j.ymgme.2013.09.015
M3 - Article
C2 - 24100246
AN - SCOPUS:84889596324
SN - 1096-7192
VL - 110
SP - S49-S56
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - SUPPL.
ER -