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Commentary: What degree of hyperphenylalaninaemia requires treatment?
Author(s) -
Pollitt R. J.
Publication year - 2012
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/s10545-012-9505-y
Subject(s) - limiting , phenylalanine , pediatrics , medicine , chemistry , biochemistry , mechanical engineering , amino acid , engineering
Despite some 50 years’ experience in the treatment of phenylketonuria and numerous scientific publications on the subject there is no clear consensus as to what degree of hyperphenylalaninaemia will result in intellectual impairment. Studies of three main types, on untreated cases of moderate hyperphenylalaninaemia, on treated cases of phenylketonuria, and on the effects of current blood phenylalanine concentration on executive function, have lead to different conclusions. Overall, there appears to be a fairly strong case for limiting dietary treatment to individuals whose blood phenylalanine levels would otherwise exceed 600 μmol/L. This is now policy in some European countries but a formal large‐scale study of long‐term outcomes to validate the approach is urgently required.