Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria.
Mol Genet Metab
; 108(4): 255-8, 2013 Apr.
Article
em En
| MEDLINE
| ID: mdl-23465864
ABSTRACT
We are reporting a retrospective review of blood phenylalanine (Phe) concentrations in 33 patients with classical phenylketonuria (PKU) born between 1991 and 2009 and continuously followed up in our clinic in 2009. As an indicator of blood Phe control, we analysed the percentage of blood Phe concentrations within and outside of the treatment range for each individual for treatment periods between 1 month and 12 months, 1 to 6 years, and 6 to 12 years of age. Despite early diagnosis and medical management in a centralized care model, only approximately 40% of patients had 60% and more of their blood Phe concentrations within the treatment range during their lifetime treatment periods. There was no statistical difference for the percentage of blood Phe concentrations within the treatment range, the mean Phe concentrations or the SD between the various treatment periods. We found a correlation between Phe tolerance and percentage of blood Phe concentrations within the treatment range. Patients born between 1991 and 1999 had poorer control than those born later. A frequent quality assurance audit is recommended to assess treatment outcomes in clinics providing care to children with PKU.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fenilalanina
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Fenilcetonúrias
Tipo de estudo:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
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Screening_studies
Limite:
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article