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This digital document is a journal article from Analytica Chimica Acta, published by Elsevier in 2005. The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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^1H NMR-based metabonomics was used for the detection and diagnosis of inborn errors of metabolism from urine samples. 1D ^1H NMR spectra from 47 normal, 9 phenylketonuric (PKU) newborns and 1 maple syrup urine disease (MSUD) child were obtained and investigated. Urine ^1H NMR spectra of normal, PKU and MSUD samples exhibited differences concerning the phenylalanine (Phe) and branched-chain amino acids (leucine, valine, isoleucine) resonances, respectively. Principal component analysis (PCA) and partial least squares discriminant analysis (PLS-DA) were applied in order to establish adequate models for discrimination between pathological and normal samples. Normalization of the spectra was based to the total spectral intensity or to creatinine peak. Different data transformation procedures were used. Discrimination of PKU and MSUD samples from normal samples was achieved by the different models produced by PCA and PLS-DA. Comparing the two methods of statistical analysis, PLS-DA was found to lead to a most proper discrimination when all pathological samples were used, while PCA proved suitable to identify every single pathological sample among the physiological ones. Thus, ^1H NMR in urine can be considered as an alternative to blood spots in order to develop a mass-screening method, which does not require sample pre-treatment and avoids any painful procedure for the newborns. ... Read more

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This digital document is an article from Macmillan Reference USA Science Library: Genetics, brought to you by Gale®, a part of Cengage Learning, a world leader in e-research and educational publishing for libraries, schools and businesses.The length of the article is 1169 words.The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase.You can view it with any web browser.A comprehensive collection of articles on all aspects of genetics, from Mendel to the decoding of the human genome. Explains the workings of genes and chromosomes, genetic diseases, and biotechnology. Covers the ethical, legal, and social issues connected to genetic science and includes coverage of careers in the field. ... Read more

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This digital document is an article from Gale Encyclopedia of Medicine, 3rd ed., brought to you by Gale®, a part of Cengage Learning, a world leader in e-research and educational publishing for libraries, schools and businesses.The length of the article is 869 words.The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase.You can view it with any web browser.The third edition of this authoritative, comprehensive, in-depth medical guide features information on medical topics in language accessible to adult laypersons. Disease/disorder articles typically cover definition; description; causes and symptoms; diagnosis; treatments; prevention; and more. Test/treatment articles typically cover definition; purposes; precautions; preparation; risks; normal and abnormal results; and much more. ... Read more

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This digital document is an article from Encyclopedia of Food and Culture, brought to you by Gale®, a part of Cengage Learning, a world leader in e-research and educational publishing for libraries, schools and businesses.The length of the article is 2705 words.The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase.You can view it with any web browser.Intended to provide a comprehensive description of the enterprise of education both within the United States and throughout the world. Articles offer a view of the institutions, people, processes, and products found in educational practice. ... Read more

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This digital document is an article from Family Practice News, published by International Medical News Group on December 1, 2000. The length of the article is 1207 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

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Title: Counsel Patients to Follow Strict PKU Diet for Life.(Brief Article)
Author: Mary Ann Moon
Publication: Family Practice News (Magazine/Journal)
Date: December 1, 2000
Publisher: International Medical News Group
Volume: 30Issue: 23Page: 4

Article Type: Brief Article

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This digital document is an article from Pediatric News, published by International Medical News Group on April 1, 2005. The length of the article is 871 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

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Title: New technology may expand newborn screening: the committee is recommending routine screening of 29 of the 78 conditions that they analyzed.(Clinical Rounds)
Author: Mark S. Lesney
Publication: Pediatric News (Magazine/Journal)
Date: April 1, 2005
Publisher: International Medical News Group
Volume: 39Issue: 4Page: 43(1)

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This digital document is a journal article from Analytica Chimica Acta, published by Elsevier in 2004. The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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NMR spectra of extracted blood spots were used to investigate the possibility for the development of a new method for mass screening concerning the diagnosis of inborn errors of metabolism (IEM). Blood spots were collected on filter papers from normal, phenylketonuric (PKU) and maple syrup urine disease (MSUD) subjects and their Carr-Purcell-Meiboom-Gill (CPMG) ^1H NMR spectra were acquired. The spectra were reduced to a number of spectral descriptors and principal component analysis (PCA) was performed. The scores plot showed that PKU and MSUD samples were well discriminated from the main cluster of points. ... Read more

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This digital document is an article from Family Practice News, published by International Medical News Group on February 15, 2000. The length of the article is 568 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

Citation Details
Title: Restricted Diet Essential for Maternal PKU Patients.
Author: Maureen Donohue
Publication: Family Practice News (Magazine/Journal)
Date: February 15, 2000
Publisher: International Medical News Group
Volume: 30Issue: 4Page: 6

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This digital document is a journal article from Studies in History and Philosophy of Biol & Biomed Sci, published by Elsevier in . The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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Genetic determinism labels the morally problematical claim that some socially significant traits, traits we care about, such as sexual orientation, gender roles, violence, alcoholism, mental illness, intelligence, are largely the results of the operation of genes and not much alterable by environment, learning or other human intervention. Genetic determinism does not require that genes literally fix these socially significant traits, but rather that they constrain them within narrow channels beyond human intervention. In this essay we analyze genetic determinism in light of what is now known about the inborn error of metabolism phenylketonuria (PKU), which has for so long been the poster child 'simple' argument in favor of some form of genetic determinism. We demonstrate that this case proves the exact opposite of what it has been proposed to support and provides a strong refutation of genetic determinism in all its guises. ... Read more

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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

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Product Description
This is a comprehensive, high-level reference book on the latest clinical findings on the effects of genetic disorders on pregnancy outcomes. The book covers metabolic diseases and disorders, nutrition, neonatal and postnatal growth, ovarian insufficiency, lymosomal disorders, urea cycle defects, amino acid and organic acid disorders, gene therapy, diabetes, prenatal diagnosis, and ethics. Six of its 17 chapters deal with phenylketonuria. ... Read more

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All newborns in the U.S. and in many parts of the world now have a couple of drops of blood drawn from their heels in order to test them for PKU and a host of other genetic disorders that can cause mental retardation or premature death if not treated immediately. This is the biography of the man best known for his development of newborn screening for PKU. Yet this was only one of his prodigious accomplishments. Tests were developed in Bob Guthrie's laboratory for more than 30 treatable disorders that cause mental retardation or death, giving the term "newborn screening" fresh meaning. He also waged a battle against lead poisoning long before the public or the medical community became concerned about this danger and was a member of the Physicians for Social Responsibility-an organization devoted to preventing nuclear war and o-posing nuclear weapons testing. ... Read more