New Approach to the Treatment of Hyperphenylalaninemia: Tetrahydrobiopterin Supplementation Therapy
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...
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15 صفحه اولTetrahydrobiopterin 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....
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ژورنال
عنوان ژورنال: Rinsho yakuri/Japanese Journal of Clinical Pharmacology and Therapeutics
سال: 2004
ISSN: 1882-8272,0388-1601
DOI: 10.3999/jscpt.35.4_195