81. PKU Test Results -- What's Normal? - DrGreene.com - Caring For The Next Generati Nicole. The PKU test is a screening test for PHENYLKETONURIA (PKU). PKU is a disordercaused by a missing or decreased enzyme called phenylalanine hydroxylase. http://www.drgreene.com/21_691.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 PKU Test Results What's normal? Ok my son was born six weeks ago . He was in the hospital for 10 days because he had a fever of 104 on the second day. He was tested for his PKU on the seventh day. Last week the hospital called and said they wanted to retest him because his PKU came back a 4...they said 4 was in range but that four or under was normal so why test again? We took him back and did the test again and are waiting for the results. Now Im reading up on PKU and I'm worried sick because it all says to change their diet right away and he is already six weeks old and I'm not sure how long it will take to get the results back again. They didn't know last time for four weeks. He is a breastfeed only baby. We are from Fla but live in Puerto Rico. That baby is blonde with blue eyes so that worries me too since they seem to have that problem more than darker skin and eyed babies. I have read too that some other states and countries have the standards different. Some have 2-6 as normal. In that case he would be fine. Some say 2 or below. I just don't know what to think. My doctor here isn't a lot of help. It seems he doesn't know a lot about it. Is there anything I should do while I wait for results as far as his diet? Am I taking chances breastfeeding him since there is protein in my milk? What do babies normally test at in the states? I don't know if this has anything to do with it but I read that peanuts have high levels of phenylalaine in them and I ate some in the hospital before breastfeeding before he had the test. Not many but I did eat them. Anything you can tell me that would put my mind at ease would help. Thank you!

82. Special Needs Family Friendly Fun - Metabolic Disorders PKU allied disorders Phenylketonuria (PKU) is an inherited genetic metabolicdisorder in which the enzyme required to digest phenylalanine http://www.family-friendly-fun.com/links/metabolicdisorders.html

Links Portal Offering family friendly fun and special needs resources that enhance the quality and fun of family life for special needs families. Family friendly fun Site map Site Our mission is to: enable families with special needs to share their experiences by subscribing to our newsletter , joining our eGroup forum, talking in our chat room and posting to our bulletin board ; offer information on a wide variety of family fun and special needs topics ; and facilitate access via rings and links to websites relevant to special needs families. Adoption Arts Crafts Babies Charities ... Work at home Metabolic disorders Other important Metabolic disorders links: A Focus on Diabetes and Metabolic Disorders Treatment and Medications... medical information about diabetes: 100% Doctor produced content resource and online community for diabetics"... http://www.focusondiabetes.com Alternative Hepatitis C Cures: Treatment Options... http://objectivemedicine.com Anred... ANRED is a nonprofit organization that provides information about anorexia nervosa, bulimia nervosa, binge eating disorder, compulsive exercising, and others... http://www.anred.com

83. CME:Phenylketonuria (PKU): Screening And Management 1. Phenylketonuria (PKU) is caused by help Choose from the answers below. http://fmp.cit.nih.gov/cme/new113.htm

Welcome to the CME testing site for the NIH Consensus Conference on Phenylketonuria (PKU): Screening and Management The National Institutes of Health/Foundation for Advanced Education in the Sciences is accredited by the Accreditation Council for Continuing Medical Education to sponsor continuing medical education for physicians. The National Institutes of Health/Foundation for Advanced Education in the Sciences designates this educational activity for a maximum of 1 hour in Category 1 credit toward the AMA Physician's Recognition Award. Each Physician should claim only those hours of credit that he/she actually spent in the educational activity. The authors of the conference statement (conference panelists) have signed disclosure forms indicating that they have no conflicts of interest (financial or scientific) with respect to the topic or the conference questions under consideration. Individuals with conflicts are eliminated from

84. PAH http://www.ncbi.nlm.nih.gov/cgi-bin/SCIENCE96/gene?PAH

85. Practitioner's Manual Phenylketonuria (PKU) Practitioner's Manual Phenylketonuria (PKU). Classical phenylketonuria is a disorderin which the blood phenylalanine, or phe, rises above 20 mg/dL on a normal http://www.hhs.state.ne.us/nsp/pmpku.htm

Practitioner's Manual Phenylketonuria (PKU) Phenylketonuria, or PKU, is caused by a recessively inherited enzyme defect in which the body cannot properly use the amino acid phenylalanine. All other metabolic processes are intact but phenylalanine, which comes from all dietary protein, accumulates in the blood. Excess phenylalanine cannot be converted to tyrosine due to a lack of phenylalanine hydroxylase, the enzyme that catalyzes the conversion of phenylalanine to tyrosine. Phenylalanine accumulates in the body and causes damage. Overall, PKU occurs in about 1 in 10,000 to 1:25,000 U.S. live births. Clinical Features With appropriate treatment, the risk of any of these conditions is substantially reduced. Classical phenylketonuria is a disorder in which the blood phenylalanine, or phe, rises above 20 mg/dL on a normal diet (normal blood phe is less than 2.0 mg/dL). Without treatment, nearly all affected individuals develop severe mental retardation. Other symptoms include severe mental deficiency, microcephaly, eczematous or oily skin, cerebral palsy, convulsions, dysphasia, hyperactivity with purposeless movements, autistic-like behavior, and an abnormal EEG. In infants, vomiting may mimic pyloric stenosis. The skin and hair are usually fair, the eyes may be blue and a "mousey" odor of the baby's urine is frequent. The smell arises from phenylacetic acid. Hyperphenylalaninemia refers to any consistent elevation of phe levels, including classical PKU. If cases of classical PKU are excluded, this includes blood phe levels less than 20 mg/dL. These may be caused by liver damage, transient tyrosinemia of prematurity, mutation of the phenylalanine hydroxylase gene, disorders of cofactor synthesis or regeneration, or maternal PKU. In these cases, mental retardation may or may not be present. Blood levels may remain elevated throughout life or may gradually fall towards normal. In infancy, these patients can mimic the severe PKU condition, and even in mild cases there seems to be an increased risk of the maternal PKU syndrome, as described below.

86. ETenet - Library Phenylketonuria. Definition. Phenylketonuria (PKU) is a metabolic disordercaused by a deficiency of the enzyme phenylalanine hydroxylase. http://www.etenet.com/Apps/Library/Corporate.asp?ID=518

87. The Newborn Screening Disorders Back to top. Phenylketonuria (PKU). Babies coma. Treatment depends on thedisorder a baby has but may include a special diet and medication. http://www.dhfs.state.wi.us/DPH_BFCH/Newborn_Screen/NBSdisorders.htm

Licensing Reference Center Search Family Health Home ... Staff Contacts The Newborn Screening Disorders This page will describe the disorders tested for by the newborn screen. If you have additional questions about these disorders, please ask your health care provider or go to additional information Biotinidase Deficiency Congenital Adrenal Hyperplasia (CAH) ... Fatty Acid Oxidation Disorders Biotinidase Deficiency Back to top Congenital Adrenal Hyperplasia ( CAH) Back to top Congenital Hypothyroidism Back to top Cystic Fibrosis (CF) Cystic fibrosis causes thick mucus to collect in the lungs and intestines. Mucus prevents proper breathing and can cause poor digestion of food. Lung infections and digestive problems will need medical treatment. A baby with CF will need regular medical care and a good diet. Back to top Galactosemia A baby with this problem cannot digest the sugar galactose. If not treated, galactose will build up in the body causing damage to the eyes, liver and brain. Babies with galactosemia must not have foods containing galactose or lactose, including breast milk and some infant formulas. Treatment includes a special diet and regular medical care.

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