Italian national consensus statement on management and pharmacological treatment of phenylketonuria

Italian national consensus statement on management and pharmacological treatment of phenylketonuria

Abstract Background Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of phenylalanine to tyrosine. PAH impairment causes phenylalanine accumulation in the blood and brain, with a broad spe...

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Bibliographic Details
Main Authors: Alberto Burlina, Giacomo Biasucci, Maria Teresa Carbone, Chiara Cazzorla, Sabrina Paci, Francesca Pochiero, Marco Spada, Albina Tummolo, Juri Zuvadelli, Vincenzo Leuzzi
Format: article
Language:EN
Published: BMC 2021
Subjects:
Phenylketonuria
Italian consensus
Transition
Pharmacotherapy tailoring
BH4 test
Sapropterin
Medicine
R
Online Access:https://doaj.org/article/93b917db1d7147fb934d0c76f2d07494
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https://doaj.org/article/93b917db1d7147fb934d0c76f2d07494

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