Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria

R. Cerone; M. C. Schiaffino; A. R. Fantasia; M. Perfumo; L. Birk Moller; N. Blau

doi:10.1016/j.ymgme.2003.11.008

Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria

R. Cerone, M. C. Schiaffino, A. R. Fantasia, M. Perfumo, L. Birk Moller, N. Blau

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Abstract

We report on the long-term follow-up of the first Italian patient with the tetrahydrobiopterin (BH₄)-responsive type of phenylalanine hydroxylase deficiency (R243X/Y414C genotype). The patient was diagnosed by the newborn screening for phenylketonuria (PKU) and with a positive BH₄ loading test. Introduction of BH₄ (initially 10 and later 20mg/kg/day) in addition to reduced low-phenylalanine diet resulted in therapeutic plasma phenylalanine concentrations (4 in the treatment of some patients with mild PKU.

Original language	English
Pages (from-to)	137-139
Number of pages	3
Journal	Molecular Genetics and Metabolism
Volume	81
Issue number	2
DOIs	https://doi.org/10.1016/j.ymgme.2003.11.008
Publication status	Published - Feb 2004

ASJC Scopus subject areas

Biochemistry
Genetics
Endocrinology, Diabetes and Metabolism

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10.1016/j.ymgme.2003.11.008

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title = "Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria",

abstract = "We report on the long-term follow-up of the first Italian patient with the tetrahydrobiopterin (BH4)-responsive type of phenylalanine hydroxylase deficiency (R243X/Y414C genotype). The patient was diagnosed by the newborn screening for phenylketonuria (PKU) and with a positive BH4 loading test. Introduction of BH4 (initially 10 and later 20mg/kg/day) in addition to reduced low-phenylalanine diet resulted in therapeutic plasma phenylalanine concentrations (4 in the treatment of some patients with mild PKU.",

author = "R. Cerone and Schiaffino, {M. C.} and Fantasia, {A. R.} and M. Perfumo and {Birk Moller}, L. and N. Blau",

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AU - Schiaffino, M. C.

AU - Fantasia, A. R.

AU - Perfumo, M.

AU - Birk Moller, L.

AU - Blau, N.

PY - 2004/2

Y1 - 2004/2

N2 - We report on the long-term follow-up of the first Italian patient with the tetrahydrobiopterin (BH4)-responsive type of phenylalanine hydroxylase deficiency (R243X/Y414C genotype). The patient was diagnosed by the newborn screening for phenylketonuria (PKU) and with a positive BH4 loading test. Introduction of BH4 (initially 10 and later 20mg/kg/day) in addition to reduced low-phenylalanine diet resulted in therapeutic plasma phenylalanine concentrations (4 in the treatment of some patients with mild PKU.

AB - We report on the long-term follow-up of the first Italian patient with the tetrahydrobiopterin (BH4)-responsive type of phenylalanine hydroxylase deficiency (R243X/Y414C genotype). The patient was diagnosed by the newborn screening for phenylketonuria (PKU) and with a positive BH4 loading test. Introduction of BH4 (initially 10 and later 20mg/kg/day) in addition to reduced low-phenylalanine diet resulted in therapeutic plasma phenylalanine concentrations (4 in the treatment of some patients with mild PKU.

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JO - Molecular Genetics and Metabolism

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Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria

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