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Defining tetrahydrobiopterin (BH 4 )‐responsiveness in PKU
Author(s) -
Blau Nenad
Publication year - 2008
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-007-9979-1
Subject(s) - tetrahydrobiopterin , citation , library science , medicine , computer science , chemistry , psychology , pediatrics , biochemistry , enzyme , cofactor
# SSIEM and Springer 2007 BH4-responsive hyperphenylalaninaemia (HPA) is a recently described variant of phenylalanine hydroxylase (PAH) deficiency caused by specific mutations in the PAH gene. Diagnosis is performed by the tetrahydrobiopterin (BH4) loading test (20 mg/kg body weight) and the overall prevalence of BH4-responsiveness within patients with phenylketonuria (PKU) for blood phenylalanine reduction of 20%, 30%, 40% and 50% was found to be 48%, 38%, 31% and 24%, respectively, 8 h after the administration, and 55%, 46%, 41% and 33%, respectively, 24 h after the administration. Using the standard 30% cut-off, BH4-responsiveness was similar regardless of the two modalities in patients with mild hyperphenylalaninaemia (79–83% responders), mild PKU (49–60% responders), and classical PKU (7–10% responders). About 46% of all HPA patients