Zschocke J, Graham C A, Stewart F J, Carson D J, Nevin N C
Department of Medical Genetics, Belfast City Hospital, Northern Ireland.
Hum Mutat. 1994;4(2):114-8. doi: 10.1002/humu.1380040204.
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.
高达10%的Guthrie试验呈阳性的新生儿患有非苯丙酮尿症高苯丙氨酸血症，即血清苯丙氨酸轻度升高，无需饮食治疗。根据特定人群中不同苯丙氨酸羟化酶突变的相对频率，非苯丙酮尿症高苯丙氨酸血症通常是由轻度高苯丙氨酸血症突变和严重苯丙酮尿症突变的联合作用引起的。本文对北爱尔兰的非苯丙酮尿症高苯丙氨酸血症进行了全面分析。特别值得关注的是一种常见的高苯丙氨酸血症突变（T380M），在北爱尔兰超过70%的非苯丙酮尿症高苯丙氨酸血症患者中存在。对这种突变进行筛查简便且成本低廉，能够在大多数情况下极早期帮助确诊非苯丙酮尿症高苯丙氨酸血症。这对临床可能有用，也能让家长安心。所描述的其他突变有V245A、L194P和E390G。
