Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria

被引：32

作者：

Burgard, P ^{[1
]}

Rupp, A ^{[1
]}

Konecki, DS ^{[1
]}

Trefz, FK ^{[1
]}

Schmidt, H ^{[1
]}

LichterKonecki, U ^{[1
]}

机构：

[1] MARSHFIELD MED RES FDN,CTR GENET MED,MARSHFIELD,WI 54449

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1996年 / 155卷

关键词：

phenylketonuria; genotype; treatment; IQ;

D O I：

10.1007/PL00014222

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The interdependence of the predicted in vitro residual enzyme activity (PRA), as deduced from the complete genotypes of 64 hyperphenylalaninaemic patients, and parameters for diagnosis of hyperphenylalaninaemic disorders, the fluctuation of the phyenlylalanine (Phe) values during treatment, longterm dietary control during treatment, and a parameter for the outcome of therapy (IQ) was investigated by correlation analysis. A highly significant correlation was found between the PRA and diagnostic parameters, as well as the fluctuation of the Phe values during treatment. Significant correlations were also observed between the parameter describing the fluctuation of the Phe values and the IQ, as well as between the quality of dietary control and IQ. The PRA is a valuable tool for the differential diagnosis of hy perphenylalaninaemic disorders and for the prediction of one aspect of the course of the disease which is related to the intellectual outcome of therapy. The quality of dietary control was independent of the genotype, indicating that the outcome of therapy can be successfully manipulated in spite of the genetic make-up.

引用

页码：S11 / S15

页数：5

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