Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Loading Test
نویسندگان
چکیده
منابع مشابه
Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency
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)...
متن کاملthe past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group
چکیده ندارد.
Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU).
It has recently been demonstrated that variability in blood phenylalanine levels is inversely correlated with IQ and is a better predictor of IQ in early and continuously treated patients with phenylketonuria (PKU) than mean blood phenylalanine levels. This suggests that stability of blood phenylalanine should be a therapeutic goal in patients with PKU. The purpose of this study was to determin...
متن کاملRecommendations for the use of sapropterin in phenylketonuria.
Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. Until recently, the only treatment for PKU was a Phe-restricted diet. Increasing evidence of suboptimal outcomes in diet-treated individuals, inconsistent PKU management practices, and the recent availability of tetrahydrobiopterin (BH(4)) therapy have fueled the need for new management and treatment recommendatio...
متن کاملAnemia in Patients with Phenylketonuria in Yazd
Abstract Background Phenyl ketonuria (PKU) is a congenital metabolic disease. Irreversible brain damage is the result of phenyl alanin accumulation, so its amount should be restricted in patients diet. In their diet, trace elements such as hem Iron, folic acid, vitamin B12 and, etc are also limited, and could represent anemia. In this study, the frequency of anemia in PKU patients in Yazd wa...
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ژورنال
عنوان ژورنال: Journal of Inborn Errors of Metabolism and Screening
سال: 2018
ISSN: 2326-4098,2326-4594
DOI: 10.1177/2326409818788898