Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria
نویسندگان
چکیده
منابع مشابه
Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria.
OBJECTIVE To determine the prevalence of and identify subjects with phenylketonuria (PKU; phenylalanine hydroxylase deficiency) responsive to 6R-tetrahydrobiopterin (BH4) and to establish selection criteria for potential treatment with BH4. STUDY DESIGN Blood phenylalanine levels from 557 newborns and children with various degrees of PKU (blood phenylalanine, 301 to 4743 micromol/L) challenge...
متن کاملTetrahydrobiopterin responsiveness in patients with phenylketonuria.
OBJECTIVES To investigate the BH4 response in a group of patients with phenylketonuria (PKU) in order to offer this alternative treatment to the responsive patients. DESIGN AND METHODS The 24-h-long Phe/BH4 loading test was performed on 64 PKU patients requiring dietary treatment. RESULTS All patients with mild-PKU and 75% of patients with moderate-PKU were BH4 responsive, while only 11% of...
متن کاملMechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.
A subtype of phenylalanine hydroxylase (PAH) deficiency that responds to cofactor (tetrahydrobiopterin, BH4) supplementation has been associated with phenylketonuria (PKU) mutations. The underlying molecular mechanism of this responsiveness is as yet unknown and requires a detailed in vitro expression analysis of the associated mutations. With this aim, we optimized the analysis of the kinetic ...
متن کاملSapropterin 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 کاملTetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran
To determine the prevalence of 6R-Tetrahydrobiopterin (BH4) responsive phenylketonuria (PKU) in 53 cases of patients with various classification of hyperphenylalaninemia and PKU Excluding the BH4 deficient type referring to children's medical center in Iran (phenylalanine 360-2420 μmol/L), the single dose of 20 mg/kg (Kuvan®) and duration of 24 h was used. RESULTS Among the 4 different catego...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatrics
سال: 2017
ISSN: 0031-4005,1098-4275
DOI: 10.1542/peds.2016-1591