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Hyperphenylalaninemia in the Philippines.

Authors: Sylvia, Capistrano-Estrada; Carmencita D, Padilla;

Hyperphenylalaninemia in the Philippines.

Abstract

To present patients with hyperphenylalaninemia (HPA) diagnosed by routine newborn screening and to discuss the principles in managing hyperphenylalaninemia, retrospective clinical chart review was conducted. Newborn screening for phenylketonuria (PKU) was performed using the Guthrie Test or Bacterial Inhibition Assay, utilizing dried blood spots on special filter cards. Positive screens were confirmed through plasma amino acid determination, urinary pterins for tetrahydrobiopterin deficiency, enzyme analysis. Once confirmed, the patients were kept on low-phenylalanine diet and regularly monitored for blood phenylalanine levels and developmental profile. A total of 189,720 newborns were screened from 1996--2001. Seventy five screened positive for PKU; 41 returned for retest; 3 were confirmed positive for HPA. This paper presents the first two cases of HPA detected by the Philippine Newborn Screening Program. The management of each case upon diagnosis is discussed. The significance of early detection and treatment of HPA is emphasized.

Related Organizations
Keywords

Medical Audit, Philippines, Infant, Newborn, Infant, Phenylalanine Hydroxylase, Neonatal Screening, Phenylketonurias, Humans, Public Health Administration, Program Evaluation, Retrospective Studies

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
1
Average
Average
Average
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