Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Loading Test
J. inborn errors metab. screen
;
6: e170028, 2018. tab, graf
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1090954
ABSTRACT
Abstract In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identified using a loading test (LT). Phenylalanine/natural protein (Phe/NP) intake is increased to elevate blood Phe prior to the LT. In a longitudinal retrospective study, the impact of Phe/NP titration post-LT in 58 patients (19.6 + 8.2 years) with PKU during 4 study periods (SPs) was examined. In SP1 (2010-2013), patients were diet treated only; in SP2 (2014), the Phe/NP titration was followed by the LT in SP3 (2015). In SP4 (2016), patients received diet treatment only (n » 49) or BH4 þdiet (n » 9). The median percentage blood Phe within the target range was higher in SP1 versus SP4 (64 [28-85] vs 45 [0-66]; P < .001). Our results suggest that transient Phe/NP titration, associated with a deliberate increase in NP, may adversely affect metabolic control. Controlled studies are necessary to examine the longer term impact of temporary increased NP with BH4 LT in non-BH4-responsive patients.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Tipo de estudo:
Estudo observacional
/
Fatores de risco
Idioma:
Inglês
Revista:
J. inborn errors metab. screen
Assunto da revista:
Medicina Cl¡nica
/
Patologia
Ano de publicação:
2018
Tipo de documento:
Artigo
País de afiliação:
Portugal
/
Reino Unido
Instituição/País de afiliação:
CHP EPE/PT
/
The Children's Hospital/GB
/
ICBAS
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