Phenylketonuria (PKU) is a genetic disorder of metabolism, caused by a deficiency in the enzyme phenylalanine hydroxylase. If left untreated, it can produce brain damage resulting in severe mental retardation, often with seizures, other neurologic abnormalities, and deficient melanin formation that predisposes to eczema. Because PKU can be treated if detected early enough, newborns are now routinely screened for it.
In 1963, Seymour Kaufman discovered that tetrahydrobiopterin, a naturally occurring small molecule, is the essential coenzyme for phenylalanine hydroxylase. Later, he and others showed that tetrahydrobiopterin is also essential for tyrosine and tryptophan hydroxylases. proving that this coenzyme is required for the biosynthesis of the neurotransmitters dopamine, norepinephrine, and serotonin. Since then Dr. Kaufman has been studying tetrahydrobiopterin, PKU, and variant genetic diseases. (Lack of tetrahydrobiopterin has also been linked to Parkinson's disease, Alzheimer's disease, and infantile autism.) Tetrahydrobiopterin: Basic Biochemistry and Role in Human Disease presents the results of his decades of research and clinical experience. As the world's leading authority on tertrahydrobiopterin, Kaufman offers this definitive book on the current state of knowledge of the biochemical functions and biosynthesis of tetrahydrobiopterin, as well as the genetic disorders involving it. Topics include: The Biosynthesis of Tetrahydrobiopterin * Phenylalanine Hydroxylase * Tyrosine Hydroxylase * Tryptophan Hydroxylase * Nitric Oxide Synthase * Phenylketonuria and Its Variants * Tetrahydrobiopterin and Disease * New Roles for Tetrahydrobiopterin "This book is a brilliant, exhaustively complete description of tetrahydrobiopterin and its implications for human disease. It is a veritable tour de force by a scientist whose knowledge and research in this field place him far above anyone else in the world in this area of medical science... Dr. Kaufman has devoted much of his professional life to the subject of tetrahydrobiopterin and has marvelously succeeded in opening up this new area of human biochemistry." -- Harvey L. Levy, M.D., Chief of Biochemical Genetics, New England Regional Newborn Screening Program
