نتایج جستجو برای: phenylalanine hydroxylase pah deficiency
تعداد نتایج: 172799 فیلتر نتایج به سال:
"Inborn errors of metabolism," first recognized 100 years ago by Garrod, were seen as transforming evidence for chemical and biological individuality. Phenylketonuria (PKU), a Mendelian autosomal recessive phenotype, was identified in 1934 by Asbjörn Fölling. It is a disease with impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia (HPA). Its meta...
objective(s):phenylketonuria (pku) is a genetic inborn error of phenylalanine (phe) metabolism resulting from insufficiency in the hepatic enzyme, phenylalanine hydroxylase (pah), which leads to elevated levels of phe in the blood. the present study was carried out for mutation analysis of the pah gene in west azerbaijan province of iran. materials and methods:a total of 218 alleles from 40 pku...
BACKGROUND Phenylalanine and tyrosine are precursor amino acids required for the synthesis of dopamine, the main neurotransmitter implicated in the neurobiology of schizophrenia. Inflammation, increasingly implicated in schizophrenia, can impair the function of the enzyme Phenylalanine hydroxylase (PAH; which catalyzes the conversion of phenylalanine to tyrosine) and thus lead to elevated pheny...
10.1586/EEM.10.39 Phenylketonuria Phenylketonuria (PKU; Online Mendelian Inheritance in Man No. 262600) is a genetic disorder characterized by a deficiency of the hepatic enzyme phenylalanine-4-hydroxylase (PAH; EC 1.14.16.1), causing elevated concentrations of phenylalanine (Phe) in the blood and brain. Hyperphenylalaninemia (HPA) can also be caused by a deficiency of tetrahydrobiopterin (BH4)...
Phenylketonuria (PKU), an inborn error of metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene. In the Serbian population, 19 different PAH mutations have been identified. We used PAH mutations as molecular markers for population genetics study. The low homozygosity value of the PAH gene (0.10) indicates that PKU in Serbia is heterogeneous, reflecting numerous migratio...
Adult early treated hyperphenylalaninaemic patients can show specific deficits of prefrontal cortical functions. The development of additional therapeutic strategies for these patients requires the understanding of the mechanisms involved in phenylalanine-dependent impairment of fronto-cortical functions. We tested the hypothesis of phenylalanine interference with aminergic neurotransmission in...
The recent approval of sapropterin dihydrochloride, the synthetic form of 6[R]-l-erythro-5,6,7,8-tetrahydrobiopterin (BH(4)), for the treatment of phenylketonuria (PKU) as the first pharmacological chaperone drug initiated a paradigm change in the treatment of monogenetic diseases. Symptomatic treatment is now replaced by a causal pharmacological therapy correcting misfolding of the defective p...
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