61. Phenylketonuria phenylketonuria. phenylketonuria (PKU) is a rare, inherited, metabolic disorder that can result in mental retardation and other neurological problems. http://www.chclibrary.org/micromed/00060590.html

MAIN SEARCH INDEX Definition Description Causes ... Resources Phenylketonuria Definition Phenylketonuria (PKU) is a rare, inherited, metabolic disorder that can result in mental retardation and other neurological problems. People with this disease have difficulty breaking down and using (metabolizing) the amino acid phenylalanine. PKU is sometimes called Folling's disease in honor of Dr. Asbjorn Folling who first described it in 1934. Description Phenylalanine is an essential amino acid. These substances are called "essential" because the body must get them from food to build the proteins that make up its tissues and keep them working. Therefore, phenylalanine is required for normal development. Phenylalanine is a common amino acid and is found in all natural foods. However, natural foods contain more phenylalanine than required for normal development. This level is too high for patients with PKU, making a special low-phenylalanine diet a requirement. The incidence of PKU is approximately one in every 15,000 births (1/15,000). There are areas in the world where the incidence is much higher, particularly Ireland and western Scotland. In Ireland the incidence of PKU is 1/4,500 births. This is the highest incidence in the world and supports a theory that the genetic defect is very old and of Celtic origin. Countries with very little immigration from Ireland or western Scotland tend to have low rates of PKU. In Finland, the incidence is less than 1/100,000 births. Caucasians in the United States have a PKU incidence of 1/8,000, whereas Blacks have an incidence of 1/50,000.

62. HealthCentral - General Encyclopedia - Phenylketonuria General Health Encyclopedia, phenylketonuria. The genetically determined abnormality in phenylketonuria is a missing enzyme, phenylalanine hydroxylase. http://www.healthcentral.com/mhc/top/001166.cfm

WELCOME! Receive Free Newsletters Join a Community SEARCH FOR: CONSUMER HEALTH INFORMATION TOPIC CENTERS Choose a topic Acne Alcohol Allergies Alternative Medicine Alzheimer's Anemia Arthritis Asthma Baby and Toddler Health Back Care Bipolar Disorder Birth Control Bodywork and Mind/Body Bowel Breast Cancer Cancer Overview Caregiving Chemotherapy Children's Health Cholesterol Circumcision Colds and Flus Colon Cancer Cosmetic Surgery Crohn's Disease Dental Depression Diabetes Diet Drugs Digestion Disabilities Drugs and Medications Eating Disorders Eczema Erectile Dysfunction Eye and Vision Fitness Foot Care GERD/Heartburn Hair Loss Hearing Heart and Circulation Hepatitis Herbs Herpes High Blood Pressure HIV and AIDS Home Remedies Hyperactivity and ADD Immunizations/Vaccines Impotence Incontinence/Bladder Infertility Leukemia Lung Cancer Medical Breakthroughs Medical Expenses Medical Marijuana Men's Health Menopause Mental Health Migraines and Headaches Multiple Sclerosis Nutraceuticals Nutrition and Healthy Eating Osteoporosis Pain Management Parenting Parkinson's Pregnancy and Childbirth Prostate Cancer Prostate Disorders Psoriasis Rheumatoid Arthritis Safety and First Aid Schizophrenia Senior Health Sex and Relationships Sexual Health Skin and Hair Sleep Disorders Smoking Stress Reduction Stroke Substance Abuse and Addiction Teen Health Thyroid Disorders Travel Health Vitamins and Supplements Weight Loss Women's Health Women's Reproductive Cancers Yeast Infection Yoga Search Tips Advertisement Advertisement Main Consumer Health Information Home News Dr. Dean Edell

63. HealthCentral - Pediatrics Encyclopedia - Phenylketonuria Pediatric Health Encyclopedia, phenylketonuria. The genetically determined abnormality in phenylketonuria is a missing enzyme, phenylalanine hydroxylase. http://www.healthcentral.com/peds/top/001166.cfm

WELCOME! Receive Free Newsletters Join a Community SEARCH FOR: CONSUMER HEALTH INFORMATION TOPIC CENTERS Choose a topic Acne Alcohol Allergies Alternative Medicine Alzheimer's Anemia Arthritis Asthma Baby and Toddler Health Back Care Bipolar Disorder Birth Control Bodywork and Mind/Body Bowel Breast Cancer Cancer Overview Caregiving Chemotherapy Children's Health Cholesterol Circumcision Colds and Flus Colon Cancer Cosmetic Surgery Crohn's Disease Dental Depression Diabetes Diet Drugs Digestion Disabilities Drugs and Medications Eating Disorders Eczema Erectile Dysfunction Eye and Vision Fitness Foot Care GERD/Heartburn Hair Loss Hearing Heart and Circulation Hepatitis Herbs Herpes High Blood Pressure HIV and AIDS Home Remedies Hyperactivity and ADD Immunizations/Vaccines Impotence Incontinence/Bladder Infertility Leukemia Lung Cancer Medical Breakthroughs Medical Expenses Medical Marijuana Men's Health Menopause Mental Health Migraines and Headaches Multiple Sclerosis Nutraceuticals Nutrition and Healthy Eating Osteoporosis Pain Management Parenting Parkinson's Pregnancy and Childbirth Prostate Cancer Prostate Disorders Psoriasis Rheumatoid Arthritis Safety and First Aid Schizophrenia Senior Health Sex and Relationships Sexual Health Skin and Hair Sleep Disorders Smoking Stress Reduction Stroke Substance Abuse and Addiction Teen Health Thyroid Disorders Travel Health Vitamins and Supplements Weight Loss Women's Health Women's Reproductive Cancers Yeast Infection Yoga Search Tips Advertisement Advertisement Main Consumer Health Information Home News Dr. Dean Edell

64. InteliHealth: Phenylketonuria referenced in an AZ format. phenylketonuria (PKU). Health A to Z, Reviewed by the Faculty of Harvard Medical School phenylketonuria (PKU) http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/10539.html

chrome_imgPreload('gifChr_mid_but_home_mo_1','http://img.intelihealth.com/i/C/Chr_mid_but_home-o.gif'); chrome_imgPreload('gifChr_mid_but_comm_mo_2','http://img.intelihealth.com/i/C/Chr_mid_but_comm-o.gif'); chrome_imgPreload('gifChr_mid_but_dental_mo_3','http://img.intelihealth.com/i/C/Chr_mid_but_dental-o.gif'); chrome_imgPreload('gifChr_mid_but_drug_mo_4','http://img.intelihealth.com/i/C/Chr_mid_but_drug-o.gif'); chrome_imgPreload('gifChr_mid_but_askexpert_mo_5','http://img.intelihealth.com/i/C/Chr_mid_but_askexpert-o.gif'); chrome_imgPreload('gifChr_mid_but_medical_mo_6','http://img.intelihealth.com/i/C/Chr_mid_but_medical-o.gif'); chrome_imgPreload('gifChr_mid_but_chats_mo_7','http://img.intelihealth.com/i/C/Chr_mid_but_chats-o.gif'); chrome_imgPreload('gifchr_mid_but_news_mo_8','http://img.intelihealth.com/i/c/chr_mid_but_news-o.gif'); chrome_imgPreload('gifChr_mid_but_privacy_mo_9','http://img.intelihealth.com/i/C/Chr_mid_but_privacy-o.gif'); Advertisement Phenylketonuria (PKU) What Is It? Symptoms Diagnosis Expected Duration ... Additional Info What Is It? Phenylketonuria (PKU) is a rare, genetic (inherited) disorder that can cause abnormal mental and physical development if not detected promptly and treated appropriately. Normally, when a person eats protein-containing foods, special chemicals (enzymes) in the body break down (digest) these proteins into amino acids and even smaller parts, which are the body's building blocks for growth and repair. A person with PKU does not have enough of the specific enzyme that breaks down the amino acid phenylalanine. Therefore, any phenylalanine in the food someone eats cannot be digested properly and collects in the body.

65. ► Phenylketonuria phenylketonuria. Definition phenylketonuria (PKU) is a rare hereditary condition in which the amino acid phenylalanine is not properly metabolized. http://www.umm.edu/ency/article/001166.htm

Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs UM Hospital for Children Home Medical Reference Encyclopedia (English) Toggle English Spanish Phenylketonuria Overview Symptoms Treatment Prevention Definition: Phenylketonuria (PKU) is a rare hereditary condition in which the amino acid phenylalanine is not properly metabolized. PKU can cause severe mental retardation if not treated. Alternative Names: PKU Causes, incidence, and risk factors: Phenylketonuria (PKU) is inherited as an autosomal recessive trait (both parents must pass on the defective gene for the child to be affected). The genetically determined abnormality in phenylketonuria is a missing enzyme called phenylalanine hydroxylase. Phenylalanine is one of the eight essential amino acids found in protein-containing foods. In PKU, phenylalanine cannot be used in a normal fashion because of the missing enzyme. Subsequently, high levels of phenylalanine and two closely related phenylalanine derivatives build up in the body. These compounds are toxic to the central nervous system and cause brain damage.

66. Phenylketonuria In Children - Keep Kids Healthy phenylketonuria. by Barb Durso, MD. phenylketonuria (PKU) is a hereditary disease that, if left untreated, can cause mental retardation and seizures. http://www.keepkidshealthy.com/welcome/conditions/phenylketonuria.html

Bookstore Site Map Contact Us Help ... What's New? Search this site: Advanced Search Free Newsletters Main Menu Useful Tools Index of Topics Pediatric Problems New! Parenting Tips Symptom Guide Nutrition Immunizations ... Web Links Online Resources What's New Reviews New! Growth Charts Online Forums Vaccine Schedule Baby Names Guide ... Height Calculator Newsletters: Subscribe to get free news, tips and updates. Recommend Us tell a friend about us or email this page to a friend Baby Books Main Diseases and Conditions Phenylketonuria by Barb Durso, MD Phenylketonuria (PKU) is a hereditary disease that, if left untreated, can cause mental retardation and seizures. Because early intervention with the use of a special formula and diet can prevent these problems, almost all states in the United States screen all newborns for this condition. Related Topics Newborn Screening Mental Retardation Phenylalanine is an essential amino acid that is obtained from proteins in the diet. When proteins containing phenylalanine are eaten, this amino acid is used to build other proteins. Whatever is taken in and not used is normally eliminated by the body. In persons with PKU, phenylalanine cannot be eliminated normally. In so-called classic PKU , the affected child is missing an enzyme known as phenylalanine hydroxylase. Other types of PKU involve deficiencies of other enzymes, in particular, tetrahydrobiopterin.

67. Encyclopaedia Topic : Phenylketonuria, Section : Definition phenylketonuria. Search. Help. Definition. phenylketonuria (PKU) is an inherited metabolic disorder which prevents the normal breakdown of protein foods. http://www.nhsdirect.nhs.uk/en.asp?TopicID=355

68. Health Library - phenylketonuria. Alternative Medicine The following information is specific for alternative and complementary medicine. Check list. Checklist for phenylketonuria. http://yalenewhavenhealth.org/Library/HealthGuide/CAM/topic.asp?hwid=hn-1247002

69. PHENYLKETONURIA : Contact A Family - For Families With Disabled Children: Inform printer friendly, phenylketonuria, article. NATIONAL SOCIETY FOR phenylketonuria (UK) LTD. National Society for phenylketonuria (UK) Ltd http://www.cafamily.org.uk/Direct/p21.html

printer friendly PHENYLKETONURIA home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no Phenylketonuria (PKU) is an inherited metabolic condition where there is a defect in phenylalanine hydroxylase. This enzyme normally converts the phenylalanine in the body into tyrosine. Where there is an enzyme block the phenylalanine accumulates in the body tissues and affects the normal development of the brain causing learning difficulties. The heel prick test (Guthrie test) is now done on all newborn babies at 6-10 days of age and can identify PKU at an early age. Phenylalanine is an essential amino acid in dietary protein. In phenylketonuria the body is unable to make phenylalanine into other amino acids. A small quantity is required to ensure normal growth. The diet of an affected child is carefully controlled so that only the small amounts of phenylalanine necessary for growth is given. With a phenylalanine-restricted diet PKU children develop normally. It is imperative that women with PKU should be on a low phenylalanine diet before or from early pregnancy to reduce the risk of fetal abnormality. Inheritance patterns Autosomal recessive. Genetic advice is available for families with the condition.

70. Phenylketonuria - Encyclopedia Article About Phenylketonuria. Free Access, No Re encyclopedia article about phenylketonuria. phenylketonuria in Free online English dictionary, thesaurus and encyclopedia. phenylketonuria. http://encyclopedia.thefreedictionary.com/Phenylketonuria

Dictionaries: General Computing Medical Legal Encyclopedia Phenylketonuria Word: Word Starts with Ends with Definition Phenylketonuria "fee-nil-kee-ton-yur-ee-aah"+ (PKU) is a human genetic disorder A genetic disorder , or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. There are a number of possible causes for genetic defects: They may be caused by an unwelcome mutation, as are most cancers. There are genetic disorders caused by the accidental duplication of a chromosome, as in Down syndrome, or repeated duplication of part of a chromosome as in Fragile X syndrome. The defective genes are often inherited from the person's parents. In this case, the genetic disorder is known as a hereditary disease . This can often happen unxpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant. Click the link for more information. that occurs in about 1 in 15,000 births, but the incidence varies widely in different human populations from 1 in 4,500 births among the Irish The island of Ireland is the second-largest island in Europe. It lies on the west side of the Irish Sea, close to the island of Great Britain. It is composed of the Republic of Ireland in the south and Northern Ireland, an autonomous region of the United Kingdom.

71. Phenylketonuria. The New Dictionary Of Cultural Literacy, Third Edition. 2002 2002. phenylketonuria. (fenl-keet-n-OOR-ee-uh) A hereditary disease that prevents the proper metabolism of phenylalanine, an amino acid. http://www.bartleby.com/59/22/phenylketonu.html

Select Search All Bartleby.com All Reference Columbia Encyclopedia World History Encyclopedia Cultural Literacy World Factbook Columbia Gazetteer American Heritage Coll. Dictionary Roget's Thesauri Roget's II: Thesaurus Roget's Int'l Thesaurus Quotations Bartlett's Quotations Columbia Quotations Simpson's Quotations Respectfully Quoted English Usage Modern Usage American English Fowler's King's English Strunk's Style Mencken's Language Cambridge History The King James Bible Oxford Shakespeare Gray's Anatomy Farmer's Cookbook Post's Etiquette Bulfinch's Mythology Frazer's Golden Bough All Verse Anthologies Dickinson, E. Eliot, T.S. Frost, R. Hopkins, G.M. Keats, J. Lawrence, D.H. Masters, E.L. Sandburg, C. Sassoon, S. Whitman, W. Wordsworth, W. Yeats, W.B. All Nonfiction Harvard Classics American Essays Einstein's Relativity Grant, U.S. Roosevelt, T. Wells's History Presidential Inaugurals All Fiction Shelf of Fiction Ghost Stories Short Stories Shaw, G.B. Stein, G. Stevenson, R.L. Wells, H.G. Reference The New Dictionary of Cultural Literacy Medicine and Health PREVIOUS ... BIBLIOGRAPHIC RECORD The New Dictionary of Cultural Literacy, Third Edition. phenylketonuria (fen-l-keet-n- OOR -ee-uh) A hereditary disease that prevents the proper metabolism of phenylalanine, an

72. Phenylketonuria. The Columbia Encyclopedia, Sixth Edition. 2001 phenylketonuria. (f n´´ lk t´´ n r´ ) (KEY) (PKU), inherited metabolic disorder caused by the absence of a specific enzyme (phenylalanine hydroxylase). http://www.bartleby.com/65/ph/phenylke.html

Select Search All Bartleby.com All Reference Columbia Encyclopedia World History Encyclopedia Cultural Literacy World Factbook Columbia Gazetteer American Heritage Coll. Dictionary Roget's Thesauri Roget's II: Thesaurus Roget's Int'l Thesaurus Quotations Bartlett's Quotations Columbia Quotations Simpson's Quotations Respectfully Quoted English Usage Modern Usage American English Fowler's King's English Strunk's Style Mencken's Language Cambridge History The King James Bible Oxford Shakespeare Gray's Anatomy Farmer's Cookbook Post's Etiquette Bulfinch's Mythology Frazer's Golden Bough All Verse Anthologies Dickinson, E. Eliot, T.S. Frost, R. Hopkins, G.M. Keats, J. Lawrence, D.H. Masters, E.L. Sandburg, C. Sassoon, S. Whitman, W. Wordsworth, W. Yeats, W.B. All Nonfiction Harvard Classics American Essays Einstein's Relativity Grant, U.S. Roosevelt, T. Wells's History Presidential Inaugurals All Fiction Shelf of Fiction Ghost Stories Short Stories Shaw, G.B. Stein, G. Stevenson, R.L. Wells, H.G. Reference Columbia Encyclopedia PREVIOUS NEXT ... BIBLIOGRAPHIC RECORD The Columbia Encyclopedia, Sixth Edition. phenylketonuria (f lk n KEY ) (PKU), inherited metabolic disorder caused by the absence of a specific enzyme (phenylalanine hydroxylase). The absence of this enzyme, a recessive trait, prevents the body from making use of phenylalanine, one of the amino acids in most protein-rich foods, and almost always leads to mental retardation and schizoid changes; convulsions also commonly occur. Early diagnosis and treatment, which includes a carefully regulated low-phenylalanine diet begun during the first few weeks of life, may prevent serious mental deficiency. Positive improvement has been seen even when therapy is started in well-established cases. Most states have made the PKU blood or urine test mandatory for all newborn infants.

73. PKU-online, Information About Phenylketonuria Nederlandse versie. PKU diet management program for Windows It s FREE !! With the help of this program it is easy to determine http://www.wtb.tue.nl/woc/ptc/vanesch/pku/index_eng.html

Nederlandse versie PKU diet management program for Windows It's FREE !! With the help of this program it is easy to determine the phenylalanine content of food. It is primarily developed as a tool for people who do not have the daily care of (small) children, like family and friends. The program is kept simple to use. Currently, there is a Dutch version as well as an English, an Austrian, and an Italian version. The Dutch version has a database with over 600 products and online help-information. The Italian version contains roughly 300 products. The English version contains the database provided by the US Dept. of Agriculture with 2500 different products! The Austrian version (in German) has the possibility to search for products by brand name. The database can however be modified or extended at will by the individual user. Dutch version English version Austrian version Italian version Click the above link to download the program. It is a so-called self-extracting file; double-click the file in the filemanager and it will be installed automatically. Suitable for Windows 3.1/3.11, Windows95/98 and Windows NT. Look at a screenshot Dutch English Italian One of the american users of the program has changed the database. He added several special PKU products. Dowload his

74. FamilyFun: Health Dictionary: Phenylketonuria (PKU) An excerpt on phenylketonuria (PKU) from the Disney Encyclopedia of Baby and Child Care. Great ideas and advice at Family Fun. phenylketonuria (PKU). http://familyfun.go.com/parenting/child/health/childhealth/dony89enc_phen/

Search FamilyFun Tools Parent Problem Solver Field Guide to Parenting Pregnancy Calendar ... Solutions A to Z Phenylketonuria (PKU) This is a dangerous but treatable hereditary condition affecting one out of 10,000 children. Until recent decades, children with PKU always suffered brain damage and mental retardation. Now, however, the disease usually is detected and treated by means of a special diet before such damge can occur. All infants born in the United States routinely undergo blood tests to diagnose PKU. If the test shows phenylketonuria, treatment is initiated immediately, in most cases preventing the serious, permanent effects of the disease. The newest concern regarding PKU is the prevention of complications in the children of women who have been treated for the condition. WHAT CAUSES PKU? PKU results from an excess of an amino acid called phenylalanine , which is essential to the body's normal growth and development. Too much phenylalanine, however, damages the central nervous system. Phenylalanine is present in high protein foods. After the body has absorbed enough for its needs, an enzyme normally converts some phenylalanine to tyrosine, another essential amino acid; in PKU, however, that vital enzyme is absent or insufficient, so conversion to tyrosine does not take place. Instead, unused phenylalanine builds up in the bloodstream. The danger is greatest during the first year of life, when the brain is still developing. However, even if PKU develops later (which may happen if the child abandons the special diet), brain damage will occur.

75. Phenylketonuria phenylketonuria. Definition phenylketonuria (PKU) is a rare hereditary condition in which the amino acid phenylalanine is not properly metabolized. http://www.healthscout.com/ency/article/001166.htm

Advertisement Search HealthScout Web MEDLINE Special Offers TV Specials Top Features Schizophrenia Hair Loss Liver Disease Allergies ... Impotence Resources Healthscout News 3D Interactive Human Atlas Health Videos Health Encyclopedia ... Drug Library Channels Home Today Women Men ... Drug Checker Advertisement Disease Injury Nutrition Poison ... Prevention Phenylketonuria Definition: Phenylketonuria (PKU) is a rare hereditary condition in which the amino acid phenylalanine is not properly metabolized. PKU can cause severe mental retardation if not treated. Alternative Names: PKU Causes, incidence, and risk factors: Phenylketonuria (PKU) is inherited as an autosomal recessive trait (both parents must pass on the defective gene for the child to be affected). The genetically determined abnormality in phenylketonuria is a missing enzyme called phenylalanine hydroxylase. Phenylalanine is one of the eight essential amino acids found in protein-containing foods. In PKU, phenylalanine cannot be used in a normal fashion because of the missing enzyme. Subsequently, high levels of phenylalanine and two closely related phenylalanine derivatives build up in the body. These compounds are toxic to the central nervous system and cause brain damage.

76. General Term: Phenylketonuria phenylketonuria. phenylketonuria (PKU) is a disease of the nervous system caused by the lack of an enzyme which breaks down the amino acid phenylalanine. http://www.meta-library.net/biogloss/pku-body.html

Phenylketonuria Phenylketonuria (PKU) is a disease of the nervous system caused by the lack of an enzyme which breaks down the amino acid phenylalanine. The defective version of the gene is recessive. Infants who have two defective copies, and will thus develop the disease, can be identified with a genetic test, and are subsequently put on a special diet which controls the symptoms. Related Topics: Genetics Evolution Contributed by: CTNS Search for Phenylketonuria Full Glossary Index To return to the previous topic, click on your browser's 'Back' button.

77. Phenylketonuria (PKU) Clinic phenylketonuria (PKU) Clinic. phenylketonuria (PKU) is a genetic condition that occurs in 1 out of 15,000 people males and females. http://www.chw.org/display/PPF/DocID/3590/router.asp

List of Programs and Clinics Children's Hospital of Wisconsin Clinics - North Shore Children's Hospital of Wisconsin Clinics - Fox Valley Children's Hospital of Wisconsin Clinics - Gurnee ... List of Programs and Clinics : Phenylketonuria (PKU) Clinic E-mail this page Print this page Phenylketonuria (PKU) Clinic Phenylketonuria (PKU) is a genetic condition that occurs in 1 out of 15,000 people - males and females. It interferes with the breakdown of phenylalanine, a normal part of protein. Too much phenylalanine can affect brain development and lead to mental retardation. Individuals with PKU can be treated with a low-phenylalanine diet and lead completely normal, healthy lives. In Wisconsin, all newborns have been screened for PKU since 1965. The state of Wisconsin provides special low phenylalanine formula and some low-protein foods and baking products to individuals with PKU to help these children develop normally. Clinic staff follows more than 50 children and adults with PKU. An experienced team of specialists provides diagnosis and management of PKU. The PKU team includes: Mark Lubinsky, MD, medical geneticist, Children's Hospital; professor, Pediatrics (Genetics)

78. NOW Foods - Phenylketonuria phenylketonuria, phenylketonuria. Also indexed as Classical PKU, Folling s Disease, PKU. 6. Checklist for phenylketonuria. Rating, Nutritional Supplements, Herbs. http://www.nowfoods.com/?action=itemdetail&item_id=5067

79. Newborn Screening Program - Phenylketonuria phenylketonuria. Definition. phenylketonuria (PKU) is a disorder of amino acid metabolism that results in excess levels of phenylalanine in body fluids. http://www.idph.state.il.us/HealthWellness/fs/pku.htm

Phenylketonuria Definition Phenylketonuria (PKU) is a disorder of amino acid metabolism that results in excess levels of phenylalanine in body fluids. Elevated levels of phenylalanine can become neurotoxic; early detection and treatment of hyperphenylalaninemia is necessary to prevent mental retardation. Clinical Symptoms Although infants with PKU usually appear normal at birth, early symptoms may include skin rash, seizures, excessive restlessness, irritable behavior and a musty odor of the body or urine. Later signs include developmental delays, gait disturbances and mental retardation. Newborn Screening and Definitive Diagnosis Recently in Illinois, tandem mass spectrometry (MS/MS) has been implemented to provide newborn screening for PKU and hyperphenylalaninemia. This new laboratory technology has replaced the fluorometric analysis previously utilized for PKU screening. Although false positive and false negative results are possible with this screening, MS/MS should provide a more reliable screening method for the detection of elevated phenylalanine levels in dried blood samples, even in infants who have not yet received nutritional intake. As with all newborn screening, specimen collection should occur as soon as possible, but after the first 24 hours of life. When receiving a presumptive positive result (elevated phenylalanine level), the clinician should

80. HSTAT Error ca.expasy.org/cgibin/get-entries?KW=phenylketonuria phenylketonuria (PKU) NCS Assays from PerkinElmer Shopping Cart Shopping Cart Order History Order Status. Assay Platforms Genetic Screening Assays NCS Assays, Login Register. phenylketonuria (PKU), http://hstat.nlm.nih.gov/hq/Hquest/screen/DirectAccess/db/local.gcps.cps/IHR/CH4

Your session timed out or you submitted an invalid URL. A new session has been started and you may select any button EXCEPT your browser's 'Back' button to proceed. Using the 'Back' button may cause errors.

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 4     61-80 of 97    Back | 1  | 2  | 3  | 4  | 5  | Next 20