نتایج جستجو برای: phenylalanine hydroxylase pah deficiency
تعداد نتایج: 172799 فیلتر نتایج به سال:
Tetrahydrobiopterin (BH4) responsive hyperphenylalaninemia (HPA) with a mutant phenylalanine hydroxylase (PAH) gene was found during neonatal screening for PKU. This study determined blood BH4 and phenylalanine in two patients with hyperphenylalaninemia following oral load with BH4 10 mg/kg. Our patients underwent neonatal screening for PKU, had normal biopterin metabolism and their PAH mutatio...
BACKGROUND The 5-amino acid (AA) signature, including isoleucine, leucine, valine, tyrosine, and phenylalanine, has been associated with incident diabetes mellitus and insulin resistance. We investigated whether this same AA signature, single-nucleotide polymorphisms in genes in their catabolic pathway, was associated with development of impaired fasting glucose (IFG) after atenolol treatment. ...
دو مارکر چندشکلی BglII و EcoRI در اینترون 1 و اینترون 5 ژن فنیل آلانین هیدرکسیلاز (Phenylalanine Hydroxylase, PAH)| شناخته شدند. برای آزمودن اینکه آیا این چندشکلی‌ها به مانند آلل‌های خنثی عمل می‌کنند یا در معرض فشار انتخاب در جمعیت اصفهان قرار دارند، 110 فرد با روش PCR-RFLP تعیین ژنوتیپ گردیدند. فایل ورودی Arlequin با استفاده از اطلاعات هاپلوتیپی با فاز شناخته شده آماده شد و آزمون‌های Neutralit...
This chapter describes the aromatic L‐amino acids tryptophan and tyrosine and the effects on tyrosine metabolism of phenylalanine. Tryptophan and phenylalanine are essential amino acids and must ultimately be derived from dietary proteins; tyrosine is obtained both from dietary proteins and from the hydroxylation of phenylalanine by phenylalanine hydroxylase (PAH). The proportions of dietary tr...
Phosphorylation of phenylalanine hydroxylase (PAH) at Ser by cyclic AMP-dependent protein kinase is a post-translational modification that increases its basal activity and facilitates its activation by the substrate L-Phe. So far there is no structural information on the flexible N-terminal tail (residues 1–18), including the phosphorylation site. To get further insight into the molecular basis...
Phenylketonuria (PKU) is an autosomal recessive genetic disorder in which mutations in the phenylalanine-4-hydroxylase (PAH) gene result in an inactive enzyme (PAH, EC 1.14.16.1). The effect is an inability to metabolize phenylalanine (Phe), translating into elevated levels of Phe in the bloodstream (hyperphenylalaninemia). If therapy is not implemented at birth, mental retardation can occur. P...
We analyzed long-term sustainability of improved blood Phenylalanine (Phe) control and changes to dietary Phe tolerance in 11 patients (1 month to 16 years), with various forms of primary PAH deficiency (classic, moderate, severe phenylketonuria [PKU], mild hyperphenylalaninemia [HPA]), who were treated with 15-20mg/kg/d Sapropterin-dihydrochloride during a period of 13-44 months. 7/11 patients...
Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1) deficiency or autosomal recessive tyrosine hydroxylase deficiency. We report the case of a 10-years-old girl with progressive generalized dystonia and gait disorder who presented dramatic response to levodopa. The phenyla...
Use of tetrahydrobiopterin for treatment of patients with phenylketonuria (PKU) is a ‘‘hot topic” among patients and doctors taking care of them. An increasing number of publications are describing decreases in blood phenylalanine (Phe) concentrations in persons receiving tetrahydrobiopterin. From the practical point of view, however, data on the extent of tetrahydrobiopterin responsiveness are...
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