Phenylketonuria

Prenatal diagnosis of Chinese families with phenylketonuria

N. Liu, Kong, X. D., Zhao, D. H., Wu, Q. H., Li, X. L., Guo, H. F., Cui, L. X., Jiang, M., and Shi, H. R., Prenatal diagnosis of Chinese families with phenylketonuria, vol. 14, pp. 14615-14628, 2015.

The aim of this study is to investigate the ability to prenatally diagnose phenylketonuria (PKU) by using phenylalanine hydroxylase (PAH) gene mutation analysis combined with short tandem repeat (STR) linkage analysis in 118 fetuses from 112 Chinese families. Genomic DNA was extracted from the peripheral blood from members of 112 families and the exons and exon-intron boundaries of the PAH gene were amplified by PCR. PCR products were analyzed by bi-directional Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA).

A preliminary mutation analysis of phenylketonuria in southwest Iran

N. Ajami, Kazeminezhad, S. R., Foroughmand, A. M., Hasanpour, M., and Aminzadeh, M., A preliminary mutation analysis of phenylketonuria in southwest Iran, vol. 12, pp. 4958-4966, 2013.

Phenylketonuria (PKU) is a heterogeneous and autosomal recessive metabolic disorder that is mainly caused by mutations in the hepatic phenylalanine hydroxylase (PAH) gene. This study was designed to identify PAH mutations within exons 6, 7, and 10-12 in PKU patients from southwest Iran. Forty Iranian patients with clinical and biochemically confirmed PKU were enrolled.

Variations in genotype-phenotype correlations in phenylketonuria patients

L. L. Santos, Fonseca, C. G., Starling, A. L. P., Januário, J. N., Aguiar, M. J. B., Peixoto, M. G. C. D., and Carvalho, M. R. S., Variations in genotype-phenotype correlations in phenylketonuria patients, vol. 9, pp. 1-8, 2010.

Phenylalanine hydroxylase deficiency is a trait inherited in an autosomal recessive pattern; the associated phenotype varies considerably. This variation is mainly due to the considerable allelic heterogeneity in the phenylalanine hydroxylase enzyme locus. We examined the genotype-phenotype correlation in 54 phenylketonuria (PKU) patients from Minas Gerais, Brazil. Two systems were used. The first was a phenotype prediction system based on arbitrary values (AV) attributed to each mutation and the second was a correlation analysis.

The time has come: a new scene for PKU treatment

L. Lara dos Santos, Magalhães, Mde Castro, Januário, J. Nélio, de Aguiar, M. José Burl, and Carvalho, M. Raquel San, The time has come: a new scene for PKU treatment, vol. 5. pp. 33-44, 2006.

Phenylketonuria (PKU) is one of the few genetic diseases in which mental retardation can be prevented. Hence, diagnosis and treatment must be established early. PKU treatment consists of a phenylalanine-restricted diet supplemented with a phenylalanine-free mixture of amino acids. However, it is difficult to adhere to this diet. In the last decade, a better comprehension of the biochemistry, genetics and molecular basis of the disease, as well as the need for easier treatment, led to the development of several new therapeutic strategies for PKU.

Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil

L. Lara dos Santos, Magalhães, Mde Castro, Reis, Ade Oliveir, Starling, A. Lúcia Pim, Januário, J. Nélio, da Fonseca, C. Graça, de Aguiar, M. José Burl, and Carvalho, M. Raquel San, Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil, vol. 5, pp. 16-23, 2006.

In order to determine the phenylketonuria (PKU) mutation spectrum in the population of Minas Gerais State, Brazil, 78 unrelated PKU patients found by the neonatal screening program from 1993 to 2003 were tested for nine phenylalanine hydroxylase mutations. These mutations were selected due to their high frequencies in other Brazilian populations and in Portugal, where the largest contingent of the Caucasian component of the Brazilian population originated from. The most frequent mutations were V388M (21%), R261Q (16%), IVS10nt11 (13.4%), I65T (5.7%), and R252W (5%).

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