Topics

Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province.

07:00 EST 10th November 2019 | BioPortfolio

Summary of "Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province."

To delineate the variants spectrum of phenytalanine hydroxylase (PAH) gene among 78 unrelated patients with phenylketonuria (PKU) from Jiangxi province.

Affiliation

Journal Details

This article was published in the following journal.

Name: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
ISSN: 1003-9406
Pages: 1057-1061

Links

DeepDyve research library

PubMed Articles [44571 Associated PubMed Articles listed on BioPortfolio]

In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.

Phenylketonuria (PKU), caused by phenylalanine hydroxylase (PAH) gene variants, is a common autosomal inherited metabolic disease. So far, 1111 PAH variants have been revealed. The residual activity o...

Metabolomics analysis reveals perturbations of cerebrocortical metabolic pathways in the Pah mouse model of phenylketonuria.

Phenylketonuria (PKU), which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, is one of the most common inherited diseases of amino acid metabolism. Phenylketonuria is characterized...

Therapy compliance in children with phenylketonuria younger than 5 years: A cohort study.

Phenylketonuria (PKU) is a metabolic disease. It is manifested by a complete or partial inability to convert phenylalanine (Phe) to tyrosine and leads to increased concentrations of Phe in the blood a...

The Association of Therapy Adherence and Thyroid Function in Adult Patients with Phenylketonuria.

The standard, lifelong therapy of phenylketonuria (PKU) is a natural protein-restricted diet complemented with phenylalanine (Phe)-free L-amino acid mixtures that provide the daily necessary micronutr...

Uncovered Dynamic Coupling Resolves the Ambiguous Mechanism of Phenylalanine Hydroxylase Oxygen Binding.

Phenylalanine hydroxylase (PAH) is an iron enzyme catalyzing the oxidation of L-Phe to L-Tyr during phenylalanine catabolism. Dysfunction of PAH leads to the de- bilitating condition phenylketonuria (...

Clinical Trials [3201 Associated Clinical Trials listed on BioPortfolio]

SNAP: Study Nutrients in Adult PKU

Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to c...

PANDA: PKU Amino Acid Evaluation

Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to c...

Protein Requirements in Adults With Phenylketonuria (PKU)

Phenylketonuria (PKU) is an inherited inborn error of phenylalanine (PHE) metabolism caused by decreased activity of phenylalanine hydroxylase (PAH) enzyme. Therefore, PHE accumulates in p...

Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety

The aim of the study is to confirm the efficacy and safety of BH4 in the treatment of hyperphenylalaninemia caused by phenylalanine hydroxylase deficiency in patients responsive to BH4. Th...

Phenylalanine and Its Impact on Cognition

The PICO-Study is a randomized, placebo-controlled, crossover, non-inferiority trial conducted to add evidence to the current European treatment guidelines for adult patients with phenylke...

Medical and Biotech [MESH] Definitions

A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).

An enzyme of the oxidoreductase class that catalyzes the formation of L-TYROSINE, dihydrobiopterin, and water from L-PHENYLALANINE, tetrahydrobiopterin, and oxygen. Deficiency of this enzyme may cause PHENYLKETONURIAS and PHENYLKETONURIA, MATERNAL. EC 1.14.16.1.

Techniques used to add in exogenous gene sequence such as mutated genes; REPORTER GENES, to study mechanisms of gene expression; or regulatory control sequences, to study effects of temporal changes to GENE EXPRESSION.

A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)

Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.

Quick Search


DeepDyve research library

Relevant Topics

Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

Pulmonary Hypertension
Pulmonary arterial hypertension (PAH) is a chronic, life-threatening disorder characterized by abnormally high blood pressure in the arteries between the heart and lungs of affected individuals. Symptoms can range from mild breathles...


Searches Linking to this Article