An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria.
نویسندگان
چکیده
منابع مشابه
Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria
Background: Phenylketonuria as the most common genetic metabolic disorder is the result of disruption of the phenylalanine hydroxylase gene. This study was carried out to explore the phenylalanine hydroxylase gene mutation status of Iranian phenylketonuria patients. Methods: Blood samples were collected from 30 patients, and hot spot areas of the phenylalanine hydroxylase gene, in...
متن کاملDetection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria.
An extract from a liver biopsy of a patient with classical phenylketonuria contains phenylalanine 4-hydroxylase (EC 1.14.3.1) with a specific activity 0.27% of the normal activity of the hydroxylase. This enzyme from a patient with phenylketonuria is a structurally altered form of phenylalanine 4-hydroxylase that probably results from a mutation in the gene coding for the hydroxylase.
متن کاملImpact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.
OBJECTIVE The aim of the present study was to examine to what extent maternal and offspring phenylalanine hydroxylase (PAH) genotypes in conjunction with maternal IQ and dietary control during pregnancy are related to cognitive development in offspring of women with phenylketonuria (PKU). METHODS PAH gene mutations were determined in 196 maternal PKU subjects and their offspring. The women we...
متن کاملIdentifying Variable Number of Tandem Repeat Alleles in Phenylalanine Hydroxylase Gene in Patients with Phenylketonuria in Golestan Province, Iran
Background and Objective: Phenylketonuria (PKU) is a metabolic disorder that is caused by mutations in the phenylalanine hydroxylase (PAH) gene. The multiplicity of mutations in the PAH gene of PKU leads to the cases, in which the pathogenic mutation cannot be detected. In these cases, the variable number of tandem repeat (VNTR), which is the polymorphic marker associated with the PAH gene, is ...
متن کاملPhenylalanine Metabolism: Phenylketonuria
The hydroxylase is a trimer of approximately 150 kDa of identical subunits and is located predominantly in the liver. The enzyme has been mapped to human chromosome 12q22-24.1, where the gene comprises 13 exons extending over 90 kb of genomic DNA. Deletions in the gene are not common. A frequent cause among northern Europeans (~40%) is a G-to-A transition at the 5′ donor splice site in intron 1...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1998
ISSN: 0021-9738
DOI: 10.1172/jci3928