61. CMCD Knowledge Base Phenylketonuria (PKU) PKU is a recessive disorder which occurs in about one in10,000 to 25,000 live births and is caused by the absence of the enzyme http://www.childrens.com/healthinfo/Display.cfm?ID=979&main=931

62. Amino Acid Disorder Laboratory of the link between the biochemical and clinical phenotypes with these inborn errors,even for such a frequently studied disorder as phenylketonuria (PKU). http://neuro-www.mgh.harvard.edu/research/levy.html

Harvey L. Levy, M.D. Amino Acid Disorder Laboratory In the inborn errors of amino acid metabolism, mental retardation and other neurologic abnormalities are usually the primary clinical features of the disease. These abnormalities also develop in genotypically normal fetuses as in maternal inborn errors. Therapy which at least partially corrects the amino acid and related metabolite levels prevents or modifies these features. Consequently, there is reason to believe that one or more of the observed biochemical abnormalities produce the disease. However, there is virtually no knowledge of the nature of the link between the biochemical and clinical phenotypes with these inborn errors, even for such a frequently studied disorder as phenylketonuria (PKU). This lack of knowledge hinders our search for improved therapies that could prevent the chronic complications that develop in even treated patients and for therapies for presently untreatable disorders. Information about the nature of these links would be very important for developing these therapies and for advancing our ability to precisely diagnose the disorders and predict prognosis. As an initial phase in examining this biochemical-clinical link, we are identifying and measuring relevant metabolites in brain and other tissues from fetus and neonates with untreated inborn errors such as nonketotic hyperglycinemia (NKH) and galactosemia and from fetus of untreated maternal PKU pregnancies. The metabolites we are examining include amino acids, nucleotide sugars, glycolipids and fatty acids. Results so far indicate that in maternal PKU the toxic metabolite is phenylalanine and that organic acid metabolites of phenylalanine are not present in the fetus and probably play no role in fetal disease. Conversely, in maternal homocystinuria, very little homocyst(e)ine crosses the placenta, thus accounting for the much less severe fetal effect from maternal homocystinuria than from maternal PKU. In galactosemic brain, several galactolipids are markedly deficient, probably reflecting insufficient production because of deficient uridine diphosphate galactose.

63. PKU Clinic - University Of Washington, Seattle Abstract Phenylketonuria (PKU) is an autosomal recessive disorder that resultsin the accumulation of phenylalanine in the blood and soft tissues. http://depts.washington.edu/pku/pro_info/treatGuide.html

General Treatment Guidelines University of Washington PKU Clinic Management Guidelines A summary of the treatment protocol used by the University of Washington. Objectives of Treatment of PKU A general overview of the objectives of treatment for all age groups. Basic Nutrition Care Plan An overview of a basic nutrition care plan for all ages. Recommended Assessment Schedule A general guideline for assessing serum phenylalanine and tyrosine levels, nutritional status, and cognitive functioning. University of Washington PKU Self-Management Timeline Provides a long term view of the expected developmental process and suggests incremental self-management goals for the parent and child. This is also available as an Adobe Acrobat file. Download here Neuropsychological Testing Guide The neuropsychological testing protocol used by the University of Washington PKU Clinic. Suggested Reading American Dietetic Association. Phenylketonuria. Medical Nutrition Therapy Protocol.

64. Newborn Screening Tests: Keep Kids Healthy a disorder. It depends on which state you live in as to which diseases your newbornwill be screened for. In all states, at least phenylketonuria (PKU) and http://www.keepkidshealthy.com/newborn/newbornscreening.html

Bookstore Site Map Contact Us Help ... Free Web Pages! Search this site: Advanced Search Free Newsletters Main Menu Useful Tools Index of Topics Pediatric Problems New! Parenting Tips Newborn Problems Development Newborn Safety ... Medicine Cabinet Online Resources What's New Reviews New! Growth Charts Online Forums Vaccine Schedule Baby Names Guide ... Pediatric News Newsletters: Subscribe to get free news, tips and updates. Recommend Us tell a friend about us or email this page to a friend Pregnancy Books Poll: Are you going to order a supplemental newborn screen for your new baby? view results yes no Main Newborn Newborn Screening Tests Related Articles Newborn Guide Newborn Screening The Prenatal Visit Breastfeeding ... Newborn Problems Internet Links About Pediatrics Newborns and Babies Newborn screening began in 1962, with testing to identify infants with phenylketonuria (PKU). It has since been expanded to include many different endocrinological, metabolic and hematologic disorders, which test over 4 million babies in the United States each year. This testing helps to identify about 3,000 babies with serious diseases each year, so that they can be treated early, usually before symptoms develop. Prior to being sent home from the nursery, newborns have blood drawn (usually by a heel stick) and the specimen is placed on a special filter paper, which can then be sent to a centralized lab for testing. A repeat or second newborn screen is usually performed at a later time, often at the two week checkup, especially if the first test was done in the baby's first twenty-four hours of life. Some states, including Texas, mandate by law that two screens be done.

65. Mewborn Screening, PKU PHENYLKETONURIA (PKU) PKU is caused by a metabolic enzyme deficiency which resultsin not have any growth or developmental problems due to their PKU disorder. http://www.scdhec.net/hs/lab/NewbornScreening/PKU.htm

Return Lab Page NEWBORN SCREENING SECTION PHENYLKETONURIA (PKU) PKU is caused by a metabolic enzyme deficiency which results in excess accumulation of the amino acid phenylalanine in the blood. If this condition is not detected and treated within the first 2-3 months of life, the infant will become mentally retarded. It has been estimated that it would cost the state approximately $30,000 a year to care for an institutionalized mentally retarded individual. Considering a life expectancy of 50 years, this cost would total $1,500,000 for the lifetime of each individual. However, with early detection, dietary treatment with special formula will lower the phenylalanine levels and PKU induced mental retardation will be prevented. SC provides persons with PKU special dietary formula free of charge, at the present time. This policy is subject to change based on availability of funds. The state also provides free follow-up testing, as requested, on blood spot specimens from the affected individual for the rest of their lives. This follow-up testing helps the nutritionist/dietician to monitor the amount of phenylalanine the child or adult is receiving in their diet. Although previously thought that PKU individuals only needed to be on a special diet through puberty, it is now strongly recommended that these individuals adhere to the diet for their entire life. Individuals who adhere strictly to the special diet for the rest of their lives will not have any growth or developmental problems due to their PKU disorder.

66. Mt Carmel High School Library Genetic Diseases Metabolic disorder; American Obesity Association; Parkinson's Disease Foundation;National Parkinson Foundation, Inc. The Parkinson's Web; Phenylketonuria (PKU) http://powayusd.sdcoe.k12.ca.us/pusdmchs/Library/genetic.htm

MCHS Library Genetic Diseases Achondroplasia Achondroplasia: Help and Information from the UK March of Dimes: Achondroplasia Public Health Education Information Sheet Achondroplasia Gene Reviews, Developed at the University of Washington, Seattle MEDLINEplus Medical Encyclopedia: Achondroplasia MEDLINE plus Health Information, a service of the U. S. National Library of Medicine and the National Institutes of Health ADA Deficiency ADA Deficiency Developmental and Genetic Diseases, Haverford College Albinism The National Organization of Albinism and Hypopigmentation (NOAH) Facts About Albinism MEDLINEplus Medical Encyclopedia: Albinism MEDLINE plus Health Information, a service of the U. S. National Library of Medicine and the National Institutes of Health ALS (Amyotrophic Lateral Sclerosis - Lou Gehrig's Disease) ALS Association Amyotrophic Lateral Sclerosis Association (Lou Gehrig's Disease) ALS Assn. U nderstanding ALS ALS, a motor neuron disease, was first identified in 1869 by the noted French neurologist Jean-Martin Charcot. Although the cause of ALS is not completely understood, the 1990's have brought a wealth of new scientific understanding about the physiology of this disease. World Federation of Neurology Amyotrophic Lateral Sclerosis (ALS) This website is sponsored by the World Federation of Neurology to link researchers and clinicians worldwide with the goal of finding effective treatment and a cure for ALS (Lou Gehrig's Disease).

67. 1998 Annual Report - Triumph Over PKU tests performed just days after Jared's birth revealed an elevation of phenylalaninewhich can be an indication of a disorder known as phenylketonuria (PKU). http://www.uhl.uiowa.edu/Publications/AnnualReport/1998/pku_triumph.html

1998 Annual Report - Triumph Over PKU Iowa Family Triumphs Over PKU Jared Compiano, a normal healthy boy with PKU, poses with his siblings Hannah and Nathan. Effective medical management of PKU requires diagnosis as soon as possible after birth and rapid initiation of strict low protein diet. To learn how to care for their new son and how to manage his diet, Renee and John rushed Jared to a special clinic in Iowa City where they met with medical specialists experienced in treating children with PKU and other rare metabolic diseases. According to Renee,"the staff at the Metabolic Clinic was wonderful. They reassured us that Jared would be fine, agreed to meet with us on a Saturday (their day off!), and gave us a crash course on PKU and its treatment." Each year our laboratory screening program refers 15-20 infants and their families for diagnosis and treatment of these disorders. The Compianos represent just one of those families who have worked together in a strategic partnership with the laboratory and the medical community to improve the health of Iowa's children. The day-to-day devotion of the Compianos Today Jared Compiano continues to remain on the special diet and his health is excellent. He started kindergarten this fall (1998) after completing an outstanding year of preschool. As his parents were assured in the beginning, Jared is just fine. He is bright, articulate, and much like any other five-year-old boy except for his diet. Renee says,"We couldn't be more proud of him." But Jared is just the beginning of the Compianos' story. On October 4, 1995 the Metabolic Clinic at the UIHC (Jared's follow-up team) alerted the Hygienic Laboratory to the birth of Hannah Compiano, baby sister to Jared. Father John hand-delivered a specimen to the laboratory for immediate screening. Test results were all within normal limits. Then, on July 1,1998 Jared and Hannah welcomed a new baby brother, Nathan. All screening results were within normal limits. The family was gratified to learn that their new babies would not require the diet.

68. LebanonHealth Conditions / Diseases P See Breast Problems) Paranoid Personality disorder (See Personality Schizoid, Schizotypal)Pertussis (Whooping Cough) Phenylketonuria (PKU) Phlebitis Phobias. http://www.lebanonhealth.com/condi/P.htm

P Paget's Disease of the Bone (Osteitis Deformans) Pain, Back (See Back Problems Pain, Breast (See Breast Problems Pain, Chronic Pain, Menstrual (Dysmenorrhea, See Menstrual Problems Pancreatic Cancer Pancreatic Problems (Pancreatitis) Pancreatitis (See Pancreatic Problems Panic Attack Papilloma, Breast (See Breast Problems Paranoid Personality Disorder (See Personality Disorders Parkinson’s Disease Partial Seizures (see Seizures Patent Ductus Arteriosus (see Congenital Heart Defects Pelvic Inflammatory Disease Penile Cancer Penile Yeast Infection (Balanitis, See Yeast Infections Peptic Ulcers (Stomach and Duodenal) Pericarditis Periodontal Disease (See Gum Problems Peripheral Neuropathy Pernicious Anemia (Vitamin B -Deficiency Anemia, See Anemia Personality Disorders (Anti-Social, Avoidant, Borderline, Dependent, Histrionic, Narcissistic, Obsessive-Compulsive, Paranoid, Schizoid, Schizotypal) Pertussis (Whooping Cough) Phenylketonuria (PKU) Phlebitis Phobias ... Pinched Nerve Pinkeye (Bacterial Conjunctivitis, See Conjunctivitis PKU (Phenylketonuria) Placenta Previa Plantar Fasciitis ... Poison Ivy, Poison Oak and Poison Sumac

69. New Page 2 When women with phenylketonuria (PKU) a metabolic disorder diagnosed in newborns-do not follow a special diet, their babies are at risk for mental retardation http://www.cdc.gov/ncbddd/press/pku.htm

Return to Media Page Press Release February 15, 2002 Contact: CDC, Media Relations Extending the successful prevention of mental retardation through newborn screening When women with phenylketonuria (PKU) -a metabolic disorder diagnosed in newborns- do not follow a special diet, their babies are at risk for mental retardation. The results of a small interview study conducted by the Centers for Disease Control (CDC) are released today in the February 15, 2002 edition of the Morbidity and Mortality Weekly Report (MMWR). The article, “Barriers to Successful Dietary Control Among Pregnant Women with Phenylketonuria,” states that two thirds of the participants in the study were not properly managing their diets at the time they conceived. The prevention of mental retardation associated with PKU has been successful with the aid of newborn screening. Unfortunately, preventing maternal PKU-associated mental retardation is more challenging. Although a special diet for those diagnosed with PKU is recommended for life, it is often discontinued during adolescence. When women with PKU become pregnant and do not follow their diets, their babies are very likely to be affected by mental retardation and other birth defects. These birth outcomes are not caused by PKU in the infant, but by the mother's condition. Most of the birth defects can be prevented in babies if mothers maintain PKU-specific diets before and during pregnancy, Dr. José Cordero, Director, National Center on Birth Defects and Developmental Disabilities, said the CDC study indicates several barriers might complicate affected women’s ability to follow the lifelong diet, including cost, adverse tastes, and poor adherence to medical recommendations. “To ensure that women with PKU have healthy babies, it is critical that women stay on their special diets and that we find effective ways to help them and their babies,” Cordero said. “To successfully prevent maternal PKU-associated mental retardation, these barriers must be addressed.”

70. Birth Defects & Genetics: Common Forms Of Inheritance Phenylketonuria (PKU), a metabolic disorder primarily affecting Caucasians.XLinked Recessive Inheritance The X and Y chromosomes http://modimes.org/pnhec/4439_4136.asp

View All Chapters Find Your Local Chapter April 10, 2003 Before You're Pregnant During Your Pregnancy Complications Caring for Your Baby ... [View All Articles] Genes and Birth Defects Common Forms of Inheritance Each child has two copies of every gene in its body, with one copy coming from each parent. Genes in each pair carry instructions for either dominant or recessive traits. Sometimes the genes are damaged in some way, and a medical disorder results. Autosomal Dominant Inheritance If a parent has the gene for an autosomal dominant condition, there is a 50 percent chance (a one-in-two chance) that each child will have the same condition. Dominant disorders often are quite variable, with symptoms ranging from none to severe. Some conditions passed on through autosomal dominant inheritance are: Familial high cholesterol Huntington disease, a progressive nervous system disorder Some forms of glaucoma, which cause blindness if untreated Polydactyly: extra fingers or toes Marfan syndrome , which affects connective tissue (connective tissue supports and connects structures of the body; tendons, ligaments, cartilage and bone are examples of connective tissue) Autosomal Recessive Inheritance If both parents are carriers of the same recessive gene that can cause a birth defect, there is a one-in-four chance that each of their children will inherit the problem. If only one parent passes on the gene for the disorder, the normal gene received from the other parent will prevent expression of the condition.

71. Pregnancy Dictionary From EPregnancy: What Is Phenylketonuria (PKU)? A genetic liver enzyme disorder that may be regulated by a careful diet. Women withan inborn error of body chemistry called phenylketonuria (PKU) also are at http://epregnancy.com/dictionary/Definitions/198.htm

Print this page [go] code Send this to a friend _Day-by-day_ Enter your due date, and get a customized page every day! Already signed in? See more options Jan Feb Mar Apr May Jun Jul Aug Sep Oct Nov Dec 9 baby steps Getting started Trying to conceive Your health Baby prep ... Free fashion mag Sign up free Get a pregnancy news and updates email newsletter: Message boards Advertisers TTC boards Baby Names ... Maternity clothing Quick search This Week Car seat safety Baby shower games Pregnancy news Nurture your relationship ... P : Phenylketonuria (PKU) Pregnancy Dictionary Category: Baby's Health Dictionary Main Search ePregnancy Health articles ... X-Y-Z Phenylketonuria (PKU) A genetic liver enzyme disorder that may be regulated by a careful diet. In the US, all babies are screened for PKU at birth. Women with an inborn error of body chemistry called phenylketonuria (PKU) also are at high risk of having a baby with a heart defect More information on this topic: Articles about your baby at GeoParent Pregnancy tools and checklists More on Baby's Health at ePregnancy Click here to search the ePregnancy site for information on Phenylketonuria (PKU)!

72. Birth Disorder Information Directory - P See Phenylketonuria. Phenylketonuria (PKU) List of Sites. Phocomelia List of Sites. SeeWeissenbacher Zweymuller Syndrome. Pigmentary disorder with Hearing Loss http://www.bdid.com/defectp.htm

HOME P P-4 Deletion Syndrome A nationally recognized not-for-profit pre-school and therapeutic center for children with and without developmental delays ages 18 months to five years p47-PHOX, Deficiency of See Granulomatous Disease, Chronic, Autosomal Cytochrome-b-Positive Form, Type I p67-PHOX, Deficiency of See Granulomatous Disease, Chronic, Autosomal Cytochrome-b-Positive Form, Type II Pachydermopreiostosis (Hypertrophic Osteoarthropathy, Primary or Idiopathic) PACHYDERMOPERIOSTOSIS; PDP Pachyonychia Congenita See Jadassohn Lewandowsky Syndrome Pagod Syndrome See Kennerknecht Sorgo Oberhoffer Syndrome Pagon Bird Detter Syndrome (Anemia Sideroblastic Spinocerebellar Ataxia) Anemia sideroblastic spinocerebellar ataxia ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT Pagon Syndrome See Walker Warburg Syndrome Pallister Syndrome See Schinzel Syndrome Pallister Hall Syndrome (Hypothalamic Hamartoblastoma, Hypopituitarism, Imperperforate Anus, and Postaxial Polydactyly) Pallister Hall syndrome:early diagnosis and natural history PALLISTER-HALL SYNDROME; PHS Also see McKusick Kaufman Syndrome Pallister Killian Syndrome V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2

73. Caring For Your Baby: Testing The Newborn For Metabolic Birth Defects Galactosemia Babies with this disorder cannot convert galactose, a sugar The disordersare Phenylketonuria (PKU); Congenital hypothyroidism; Congenital adrenal http://www.modimes.org/pnhec/298_834.asp

View All Chapters Find Your Local Chapter April 10, 2003 Before You're Pregnant During Your Pregnancy Complications Caring for Your Baby ... [View All Articles] Newborn Screening Tests What you need to know: All states screen newborns for certain metabolic birth defects. (Metabolic refers to chemical changes that take place within living cells.) These conditions cannot be seen in the newborn, but can cause physical problems, mental retardation and, in some cases, death. Fortunately, most babies receive a clean bill of health when tested. When test results show that the baby has a birth defect, early diagnosis and treatment can make the difference between lifelong disabilities and healthy development. Many of the tests use a blood specimen taken before the baby leaves the hospital. The baby’s heel is pricked to obtain a few drops of blood for laboratory analysis. Tests for hearing loss use either a tiny, soft earphone or microphone that is placed in the baby’s ear. The March of Dimes recommends that all newborns be screened for nine metabolic disorders and for hearing loss The disorders are: Phenylketonuria (PKU) Congenital hypothyroidism Congenital adrenal hyperplasia (CAH) Biotinidase deficiency Maple syrup urine disease Galactosemia Homocystinuria Sickle cell anemia Medium chain acyl-CoA dehyrogenase deficiency (MCAD) What you can do: Find out which tests are routinely done in your state by asking your health care provider or state health department. You can also visit the Web site of the

74. The AWARE Foundation - A Common Sense Secret To A Safer Pregnancy And A Healthie Finally, if you have phenylketonuria (PKU), a disorder that prevents the liver frommetabolizing a certain amino acid called phenylalanine, you will need to http://www.awarefoundation.org/aware/articles/safer_pregnancy.asp

AWARE GALA Aware Gala, May 14, 2003 RSVP Health Articles and News About Aware Parents New News About Oral Contraceptives: Health Benefits Ten Tips to Help Minimize the Risk of Obesity in Children ... Chat Transcripts Emergency Health Resources STD Hotlines Emergency Contraception Hotlines Suicide Hotlines Mental Health Hotlines ... Support the AWARE Foundation! Search the Web A Common Sense Secret to a Safer Pregnancy and a Healthier Baby During your preconceptional visit, your practitioner can point out any special hazards you and your future baby may face. He or she can offer you testing, immunizations, counseling, nutritional therapy, or other treatment to help ward off problems before they happen. Among the women most likely to benefit from preconceptional care are those with diabetes, phenylketonuria (PKU), and certain infectious or hereditary diseases. However, because spontaneous miscarriages occur in about 25% of all pregnancies, it makes sense to schedule a pre-pregnancy exam even if you do not fall into any high-risk categories. Don't be surprised if your health care provider offers you preconceptional care on a routine gynecologic visit. Unintended pregnancies do happen. Staying healthy and informed "just in case" while you are in your reproductive years can be a big benefit. In addition, your healthcare provider can offer you valuable general or pre-pregnancy contraceptive advice during your preconceptional visit. Why Preconceptional Care Can Be Vital

75. The Mid-Atlantic Connection For PKU And Allied Disorders Group gives support to those with metabolic disorders, including tyrosinemia. View personal stories and access recipes. http://www.pkumac.org/

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76. Medical References: PKU Quick Reference and Fact Sheets. PKU PKU (phenylketonuria) is an inheriteddisorder of body chemistry that, if untreated, causes mental retardation. http://www.marchofdimes.com/pnhec/681_1219.asp

View All Chapters Find Your Local Chapter April 10, 2003 Select one Folic Acid Pregnancy Prenatal Screening Infections/Diseases Loss Concerns Newborn Information Birth Defects Polio Genetics Research Funding Perinatal Statistics Medical References Continuing Education ... Prematurity Quick Reference and Fact Sheets PKU PKU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated, causes mental retardation. Fortunately, through routine newborn screening, almost all affected newborns are now diagnosed and treated early, allowing them to grow up with normal intelligence. About one baby in 10,000 to 25,000 is born with PKU in the United States. The disorder occurs in all ethnic groups, although it is most common in individuals of Northern European ancestry. What Is PKU? PKU is a disease that affects the way the body processes protein. Children with PKU cannot process a part of the protein called phenylalanine. As a result, phenylalanine builds up in the bloodstream and causes brain damage. How Does PKU Affect a Child? Children born with PKU appear normal for the first few months. If untreated, by three to six months they begin to lose interest in their surroundings and, by the time they are a year old, they are obviously developmentally delayed. Children with untreated PKU who have suffered central nervous system damage often are irritable, restless and destructive. They may have a musty odor about them, and may have dry skin, rashes or convulsions. They are usually physically well developed and tend to have blonder hair than their siblings.

77. Metabolic Disorders Phenylketonuria (PKU) and HPA Phenylketonuria (PKU) is a hereditarydisorder of metabolism of phenylalanine. A related condition http://rarediseases.about.com/cs/metabolic/

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Metabolic Disorders Guide picks Biochemical disorders in which specific enzyme defects affect chemical processes in the body. Adrenoleukodystrophy An inherited progressive degenerative myelin disorder in which fats are not metabolized properly, leading to permanent nerve and adrenal gland damage. Maple Syrup Urine Disease An inherited metabolic disorder characterized by a distinctive sweet odor of urine and sweat. Phenylketonuria (PKU) and HPA Phenylketonuria (PKU) is a hereditary disorder of metabolism of phenylalanine. A related condition is hyperphenylalaninemia (HPA). Find links here to information and resources for both disorders. Tyrosinemia A metabolic disorder in which the amino acid tyrosine accumulates in the body and causes damage.

78. Glossary 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 phenylketonuria (PKU) disorderthat is present when an infant does not have an enzyme necessary for the http://www.lamaze.com/tools/glossary/0,9472,176132,00.html

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79. Phenylketonuria Phenylketonuria PKU. PKU (phenylketonuria) is an inherited disorderof body chemistry that, if untreated, causes mental retardation. http://gunsmoke.ecn.purdue.edu/~kpasquet/project/pku.html

Phenylketonuria - PKU PKU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated, causes mental retardation. Fortunately, most affected newborns are now diagnosed and treated early, allowing them to grow up free of mental retardation. About one baby in 15,000 is born with PKU in the United States. The disorder occurs in all ethnic groups, although it is most common in individuals of Northern European ancestry. PKU is a disease that affects the way the body processes food. Children with PKU cannot process a part of protein called phenylalanine. As a result, phenylalanine builds up in the bloodstream and causes brain damage and mental retardation. Children born with PKU appear normal for the first few months. Untreated, at three to five months they begin to lose interest in their surroundings and, by the time they are a year old, they are mentally retarded. Children with PKU often are irritable, restless and destructive. They may have a musty odor about them, and often have dry skin or rashes. Some have convulsions. Usually, they become physically well developed children, and have blonder hair than their relatives. PKU is inherited when both parents have the PKU gene and pass it on to their baby. A parent who has the PKU gene, but not the disease, is called a "carrier." A carrier has a normal gene as well as a PKU gene in each cell. A carrier's health is not affected in any known way. When both parents are carriers, there is a one-in-four chance that each will pass the PKU gene on to a child, causing it to be born with the disease. There also is a one-in-four chance that they will each pass on a normal gene, and the child will be free of the disease. There is a two-in-four chance that a baby will inherit the PKU gene from one parent and the normal gene from the other, making it a carrier like its parents. These chances are the same in each pregnancy.

80. Phenylketonuria ( PKU ) - DrGreene.com - Caring For The Next Generation go. QUICK SEARCH. http://www.drgreene.com/21_1156.html

QUICK SEARCH A - Z Guide Allergies Allergy Care Guide Asthma Care Guide Bedwetting Breastfeeding Childhood Obesity Diabetes Care Guide Ear Infections Genetics Immunizations Infectious Diseases Parenting Potty Training Rashes Safety Sleep DrGreene.com Topic Centers Mission Reviews Awards Readers Comments Press Room Partners and Supporters Contact Us Pediatric Information A-Z Guide Allergy Care Guide Asthma Care Guide Diabetes Care Guide DrGreene´s Chats FAQ Fast Facts Feature Articles Guidelines Pediatric Updates Special Feature Top Tips Community Activty Guide Advanced Search Community Central Chat Chat Schedule Cute Faces Family Friendly Recipes Parent-to-Parent Resources The DrGreene Team Newsletter Prenatal Newborn Infants Toddlers Pre-Schoolers School Age Teens / Adolescents Multimedia Library Children's Health Fertility Phenylketonuria Also known as: PKU, Classic phenylketonuria, Benign hyperphenylalaninemia, Malignant hyperphenylalaninemia, Transient hyperphenylalaninemia. Introduction: The sweetener aspartame, and many protein-rich foods, can act like poisons to children with PKU. What is it?

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