Tetrahydrobiopterin control in phenylketonuria
نویسندگان
چکیده
منابع مشابه
Tetrahydrobiopterin 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 کاملAssessment 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 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 کاملPotential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria.
OBJECTIVE To evaluate the clinical relevance of tetrahydrobiopterin (BH4) supplementation for pregnant women with phenylketonuria (PKU)/hyperphenylalaninemia (HPA) and the possibility of treating these patients with BH4 instead of a phenylalanine (Phe)-restricted diet. METHODS Genotyping was performed on 41 patients with PKU/HPA identified by newborn screening. Evaluating the genotype accordi...
متن کاملResponse of patients with phenylketonuria in the US to tetrahydrobiopterin.
Tetrahydrobiopterin (BH4) responsive forms of phenylketonuria (PKU) have been recognized since 1999. Subsequent studies have shown that patients with PKU, especially those with mild mutations, respond with lower blood phenylalanine (Phe) concentrations following oral administration of 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin (BH4). To determine the incidence of BH4 responding PKU patients in t...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2003
ISSN: 1098-3600,1530-0366
DOI: 10.1097/00125817-200301000-00010