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Article

The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency.

Journal of inherited metabolic disease - 1 Feb 2006

Leuzzi V, Carducci C, Carducci C, Chiarotti F, Artiola C, Giovanniello T, Antonozzi I

Abstract excerpt

A fall in blood phenylalanine (Phe) after tetrahydrobiopterin (BH(4)) administration is a common trait in phenylalanine hydroxylase (PAH, EC 1.14.16.1) deficiency (McKusick 261600). To explore the extent and biological correlates of this phenomenon we studied: (a) the spectrum of BH(4) response in patients with PAH deficiency; (b) the variability of BH(4) response according to the severity of the biochemical...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16601866
DOI: 10.1007/s10545-006-0096-3

Genes

PAH

Provenance

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