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Non‐phenylketonuria hyperphenylalaninaemia in Northern Ireland: Frequent mutation allows screening and early diagnosis
Author(s) -
Zschocke Johannes,
Graham Colin A.,
Stewart Fiona J.,
Carson Dennis J.,
Nevin Norman C.
Publication year - 1994
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380040204
Subject(s) - phenylalanine hydroxylase , mutation , phenylketonurias , population , biology , phenylalanine , pediatrics , genetics , medicine , endocrinology , gene , environmental health , amino acid
Up to 10% of newborn children with a positive Guthrie test have non‐phenylketonuria hyperphenylalaninaemia, i.e., mild elevation of serum phenylalanine that does not require dietary treatment. Depending on the relative frequencies of different phenylalanine hydroxylase mutations in a particular population, non‐PKU HPA is usually caused by the combined effect of a mild HPA mutation and a severe PKU mutation. Presented here is a comprehensive analysis of non‐PKU HPA in Northern Ireland. Of particular interest is one prevalent HPA mutation (T380M), which is present in over 70% of non‐PKU HPA patients in Northern Ireland. Screening for this mutation is easy and inexpensive and can help confirm the diagnosis of non‐PKU hyperphenylalaninaemia in the majority of cases at a very early stage. This may be clinically useful and reassuring for the parents. Other mutations described are V245A, L194P, and E390G. © 1994 Wiley‐Liss, Inc.