Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia
نویسندگان
چکیده
منابع مشابه
Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.
BACKGROUND Hyperphenylalaninemia (HPA) may be caused by either a deficiency in phenylalanine-4-hydroxylase or in tetrahydrobiopterin (BH4), the essential cofactor required for the hydroxylation of aromatic amino acids. The most common forms of BH4 deficiency are 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency (MIM 261640) and dihydropteridine reductase (DHPR) deficiency (MIM 261630), whi...
متن کاملTetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia.
The natural cofactor of phenylalanine hydroxylase (PAH), tetrahydrobiopterin (BH4), regulates the enzyme activity as well as being essential in catalysis. BH4-responsive PAH deficiency is a variant of hyperphenylalaninemia or phenylketonuria (PKU) caused by mutations in the human PAH gene that respond to oral BH4 loading by stimulating enzyme activity and therefore lowering serum phenylalanine....
متن کاملEvaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia.
BACKGROUND The outcome in phenylketonuria is related to the early diagnosis and management due to neonatal screening. AIMS To assess the interest of tetrahydrobiopterin (BH4) loading test and phenylalanine hydroxylase (PAH) genotyping in the management of neonates with hyperphenylalaninemia (HPA). STUDY DESIGN We evaluate the effectiveness of a BH4 loading test (20 mg/kg) in ten neonates sc...
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 کاملTetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype
BACKGROUND How to efficiently diagnose tetrahydrobiopterin (BH4) responsiveness in patients with phenylketonuria remains unclear. This study investigated the positive predictive value (PPV) of the 48-hour BH4 loading test and the additional value of genotype. METHODS Data of the 48-hour BH4 loading test (20 mg BH4/kg/day) were collected at six Dutch university hospitals. Patients with ≥30% ph...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1991
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199111000-00008