Clinical profiles of hyperphenylalaninemia patients diagnosed by newborn screening
Acta Medica Philippina
;
: 84-87, 2011.
Article
Dans Anglais
| WPRIM
| ID: wpr-631856
ABSTRACT
Hyperphenylalaninemia is due to problems in phenylalanine metabolism caused by defects in phenylalanine hydroxylase enzyme and its co-factor, tetrahydrobiopterin (BH4). This paper presents a review of patients with hyperphenylalaninemia (HPA) diagnosed by Newborn Screening Center-National Institutes of Health from 1996 to 2009. Thirteen cases were diagnosed five classical phenylketonuria (PKU), one mild PKU, three 6-pyruvoyl tetrahydrobiopterin synthase (6-PTPS) deficiency, and four mild hyperphenylalaninemia (HPA). The clinical profile of the patients highlights the importance of early diagnosis and dietary treatment, good metabolic control and regular monitoring, for better outcome.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Type d'étude:
Etude diagnostique
/
Étude de dépistage
langue:
Anglais
Texte intégral:
Acta Medica Philippina
Année:
2011
Type:
Article
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