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Article

Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency.

Molecular genetics and metabolism - 1 Jan 2011

Nalin Tatiéle, Perry Ingrid Dalira Schweigert, Sitta Angela, Vargas Carmen Regla, Saraiva-Pereira Maria Luiza, Giugliani Roberto, Blau Nenad, Schwartz Ida Vanessa Doederlein

Abstract excerpt

INTRODUCTION: Recent studies showed that phenylalanine (Phe) plasma concentrations may decrease in some patients with hyperphenylalaninemia (HPA) due to phenylalanine hydroxylase (PAH) deficiency, after the administration of tetrahydrobiopterin (BH(4)). OBJECTIVE: To determine responsiveness to a single dose of BH(4) administered according to an innovative protocol using a combined Phe and BH(4) loading test in...

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Identifiers

PMID: 22014474
DOI: 10.1016/j.ymgme.2011.09.019

Genes

PAH

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