Tetrahydrobiopterin: Basic Biochemistry and Role in Human Disease

摘要: Phenylketonuria (PKU) is a genetic disorder of metabolism, caused by deficiency in the enzyme phenylalanine hydroxylase. If left untreated, it can produce brain damage resulting severe mental retardation, often with seizures, other neurologic abnormalities and deficient melanin formation that predisposes to eczema. Because PKU be treated if detected early enough, newborns are now routinely screened for it. In 1963, Seymour Kaufman discovered tetrahydrobiopterin, naturally occurring small molecule, essential coenzyme Later, he others showed tetrahydrobiopterin also tyrosine tryptophan hydroxylases, providing this required biosynthesis neurotransmitters dopamine, norepinephrine serotonin. Since then Dr. has been studying variant diseases. (Lack linked Parkinson's disease, Alzheimer's disease infantile autism). "Tetrahydrobiopterin: Basic Biochemistry Role Human Disease" presents results his decades research clinical experience. As world's leading authority on offers definitive book current state knowledge biochemical functions as well disorders involving