81. Canadian Directory Of Genetic Support Groups National Coalition for PKU Allied Disorders (Homocystinuria, Maple Syrup UrineDisease, Tyroseinemia, Phenylketonuria PKU, Urea Cycle Disorders) http://www.lhsc.on.ca/programs/medgenet/n_sup.htm

Index by support group Canadian Directory of Genetic Support Groups Nail Patella Syndrome Worldwide (Nail Patella Syndrome) Narcolepsy Network (Narcolepsy) National Adrenal Diseases Foundation (Adrenal Hyperplasia, Congenital) National Alopecia Areata Association (Alopecia Areata) National Association for Pseudoxanthoma Elasticum (NAPE) (Pseudoxanthoma Elasticum- PXE) National Ataxia Foundation (Ataxia) (Homocystinuria, Maple Syrup Urine Disease, Organic Acidemias, Tyroseinemia, Phenylketonuria- PKU, Urea Cycle Disorders) National Congenital CMV Disease Registry (Congenital CMV - Cytomegalovirus Disease ) National Down Syndrome Society (Down Syndrome) National Foundation for Ectodermal Dysplasias (Ectodermal Dysplasia) National Fragile X Foundation (Fragile X) National Gaucher Foundation of Canada (Gaucher's Disease) National Lymphedema Network (Lymphedema) National Mucopolysaccharidosis Society (MPS) Inc.

82. Resource Library Find Information On Phenylketonuria At Phenylketonuria (PKU) is inherited as an autosomal recessive trait (both parentsmust Older children may develop movement disorders (athetosis), rocking and http://mercksource.com/pp/us/cns/cns_hc_men_content_adam.jspzQzpgzEzzSzppdocszSz

83. KinderStart - Health/Medical/Dental : Major Diseases/Conditions : Phenylketonuri PKU and Allied Disorders The National Coalition for PKU and Allied Disorders isa Icon Add/View Comments (0) Rate this Site; Phenylketonuria (PKU) PKU is a http://www.kinderstart.com/healthmedicaldental/majordiseasesconditions/phenylket

KinderStart Alta Vista Ask Jeeves Excite Google HotBot GO LookSmart Lycos Webcrawler Adoption Animal Friends Bringing Home Baby Child Development ... Major Diseases/Conditions : Phenylketonuria (PKU) Web Pages The following links are in English Children's PKU Network PKU or phenylketonuria is a metabolic disorder related to hyperphenylalaninemia. PKU Network is a non-profit organization offering newborn screening to detect these diseases in their early stages. Add/View Comments Rate this Site National Coalition for PKU and Allied Disorders The National Coalition for PKU and Allied Disorders is a not for profit organization. Add/View Comments Rate this Site National PKU News PKU (phenylketonuria), in its "classic" form, is a rare, inherited metabolic disease that results in mental retardation and other neurological problems when treatment is not started within the first few weeks of life. When a very strict diet is begun early and well-maintained, effected children can expect normal development and a normal life span. Add/View Comments Rate this Site Phenylketonuria (PKU) PKU is a disease very similar to Alkapotnuria in that an enzyme is non-functional, in the same metabolic pathway. But there the similarity ends.

84. Dr. Koop - Inborn Errors Of Metabolism The disorders are usually caused by defects in the sugar urine disease (MSUD) nutritional considerations; Phenylketonuria (PKU) - nutritional considerations http://drkoop.com/ency/article/002438.htm

Home Health Reference Inborn errors of metabolism Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Inborn errors of metabolism Injury Disease Nutrition Poison ... Side Effects Inborn errors of metabolism Definition: Inborn errors of metabolism are rare genetic disorders in which the body cannot turn food into energy (metabolize food) normally. The disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components. Alternative Names: Galactosemia - nutritional considerations; Fructose intolerance - nutritional considerations; Maple sugar urine disease (MSUD) - nutritional considerations; Phenylketonuria (PKU) - nutritional considerations; Branched chain ketoaciduria - nutritional considerations New Features Fewer Migraines Skin Cancer Atkins/Low Carb Diets Learn More About Migraines * All Health Centers * Acne Addictions AIDS/HIV Alcohol Abuse Allergies Alternative Medicine Alzheimer's Arthritis Asthma Attention Deficit Disorder (ADHD) Backache Bipolar Affective Disorder Birth Control Blood Blood Pressure Bone/Joint/Tendon Bowel Brain Breast cancer Cancer Cerebral Palsy Cholesterol Cramps Crohn's Disease Cysts Dental/Oral Depression Diabetes Diet, Fitness, Looks

85. The Strategis Page Has Moved/ La Page Pour Strategis Est Démenagée Newborn Screening These tests focus on the identification of metabolic disordersin newborns. One example is the newborn screening for phenylketonuria (PKU). http://strategis.ic.gc.ca/epic/internet/inbac-bec.nsf/en/h_bk00284e.html

Biotechnology and the Consumer The Web site has been moved to a new address Please update your bookmarks and links. If you are unable to find the page or information you seek, please contact us for assistance. Thank you. Strategis Client Services Help Desk Tel: (613) 954-5031 Fax: (613) 954-1894 Toll Free: 1-800-328-6189 Email: strategis@ic.gc.ca Return to Strategis Main Menu La biotechnology et le Consommateur nouvelle adresse Merci. Sans frais : 1-800-328-6189 strategis@ic.gc.ca Menu principal de Strategis

86. News And Views - What's New - Expanded Newborn Screening In addition to phenylketonuria (PKU) there are other inherited disorders of aminoacid metabolism such as citrullinaemia and methylmalonic acidaemia. http://genetichealthvic.net.au/pages/news&views/NewbornParentInfo.html

diary of events in the news what's new website feedback ... what's new Expanded newborn screening Introduction Guidelines Information for Parents Information for Parents Newborn Screening has been available to all babies in Victoria for the past 30 years. The newborn screening test (also known as the Guthrie test or the heel prick test) is performed on a blood spot collected by heel prick. Four small drops of blood are placed on special pre-printed filter paper, air dried and sent for processing to the Newborn Screening Laboratory of Genetic Health Services Victoria at The Royal Children's Hospital. At present babies are screened for 3 rare but serious conditions: phenylketonuria, congenital hypothyroidism and cystic fibrosis. From early 2002 the introduction of tandem mass spectrometry will expand screening of babies, by detection of metabolites of a number of serious conditions, such as MCAD deficiency, methylmalonic acidaemia (MMA) and citrullinaemia. Early detection and treatment of these conditions usually results in a better outcome for babies. Information about the conditions Phenylketonuria (PKU) Newborn screening for PKU was introduced in Victoria in 1966.

87. NeRAGE.org - Germany May Screen All Newborns For 20 Disorders to reducing birth defects and infant mortality, lists nine disorders for which newbornsshould be screened phenylketonuria (PKU), congenital hypothyroidism http://www.nerage.org/stories.php?story=02/02/25/5572932

88. Riley Hospital For Children Clinical Service include the following Phenylketonuria (PKU) and other aminoacid disorders; Hyperammonemias; Organic acidopathies; http://rileyhospital.org/document.jsp?locid=333

89. DDC Clinic For Special Needs Children - News Autism spectrum disorders, Benign infantile hypotonia (?), Maternal Phenylketonuria(PKU), Phenylketonuria (PKU) phenylalanine hydroxylase deficiency, 261600. http://www.ddcclinic.org/sciencemedical_disorderdisease.htm

Disorder / Disease List Click on OMIM number to link to the OMIM database. Use your back button to return to the DDC Clinic web site. Genetic / Metabolic Disease OMIM number Adenylosuccinase (adenylosuccinate lyase, ADSL) deficiency Amish brittle hair syndrome Autism spectrum disorders Benign infantile hypotonia (?) Byler disease Cartilage-hair hypoplasia dwarfism Celiac disease Cerebral palsy with late onset Ig A nephropathy (?) Chicken breast disease (Amish nemaline myopathy) Chromosome 8 duplication Cohen syndrome Congenital upper anomalies (sporadic) Crigler-Najjar syndrome Type 1 Down syndrome Familial cleft lip with or without cleft palate Familial craniosynostosis (?) Familial deafness (?) * Familial seizure with mental retardation (?) Ganglioside GM3 synthase (alpha 2,3-sialytransferase) deficiency Hemophilia B – Factor IX deficiency Hypertrophic cardiomyopathy * Hypotonia, ataxia and developmental delay (?) Hypotonia, excessive height, pectus excavatum and mental retardation (Sotos syndrome?) Hypertriglyceridemia – lipoprotein lipase deficiency or apolipoprotein C-II deficiency Infantile lethal cardiomyopathy Juvenile glaucoma, failure to thrive and leukodystrophy (?)

90. Autism Research At The Duke Center For Human Genetics behavior. Some of these disorders include Fragile X Syndrome, TuberousSclerosis Complex (TSC), and Phenylketonuria (PKU). When http://autism-pdd.net/autism-gene-research.html

Home Site Map Link To Us Contact Us ... Autism Research Autism Gene Research What is Autism? Autism Research Spectrum Disorders Books on Autism Autism History Related Link Category NIH Research Related Link Related Link Related Link ... Related Link Related Link Category Related Link Related Link Related Link Related Link ... Related Link AUTISM Description Autism is a chronic, nonprogressive developmental disorder. Individuals with autism have a unique set of symptoms in three areas: socialization (interaction with others), communication, and behavior. Autism is a common disorder, when other diagnoses such as pervasive developmental disorder (PDD), pervasive developmental disorder (not otherwise specified - PDD-NOS), and Asperger's disorder are included in the spectrum. Autism is a complex genetic disorder thought to be caused by one or more genes, either acting alone or together with other factors. Through the Medical Genetics collaborative research study into the hereditary basis of autism, we hope to find the gene(s) that leads to autism. Finding these gene(s) will provide valuable insight into how the disorder is caused and will hopefully lead to improved diagnostic and treatment modalities. Can Autism Be Inherited?

91. The Gene Letter By GeneSage - Archives Newborn screening started in the early 1960s with phenylketonuria (PKU), a disorderleading to profound mental retardation unless the child is placed on a low http://genesage.com/professionals/geneletter/archives/newborn.html

Browse Current Issue Browse Previous Issues Browse Previous Content Search GeneLetter Archives All GeneLetter Resources Discussions Surveys March 1, 1998 Newborn Screening: State Policies on Testing, Informed Consent, and Public Input Dorothy Wertz

92. Market Research Reports - Business Market Research Reports & Industry Analysis Digestive Disorders Gastrointestinal Defects Anal Atresia MucopolysaccharidosesNeonatal Jaundice Omphalocele Phenylketonuria (PKU) Pyloric Stenosis TaySachs http://www.newsletters.com/map/prod/142396.html

Welcome Guest login/register 0 items Research Index My Account ... Customer Service MarketResearch.com is an aggregator of global business intelligence representing the most comprehensive collection of published market research available on-demand. Strategy starts with the most relevant, current and credible research available. Strategy starts here. Learn more See what business professionals say about MarketResearch.com US: 800-298-5699 EU: +31-20-626-4077 Intl: +1-212-807-2600 Advanced Search Search Tips Most Popular Pages Market Research Online: Marketing Research Reports: Technology and Media Market Research: Healthcare Market Research Reports: Pet Care Products Market Trends in Pet Food Industry Market Industry Research Analysis: Market Research Online from MarketResearch.com View Category Index Consumer Goods Apparel Entertainment ... View all Publishers Life Sciences » Kalorama Information Euromonitor International Business Communications Company Inc. Consumer Goods » Datamonitor Mintel International Group MarketLooks - Packaged Facts Snapshots International ... Canadean Ltd Technology » Yankee Group Paul Budde Communication Espicom Business Intelligence Ltd.

93. Hayward Genetics Center Families of individuals with single gene disorders (eg, phenylketonuria PKU, cysticfibrosis, muscular dystrophy), chromosomal abnormalities (Down syndrome http://www.omi.tulane.edu/human_genetics/services.html

94. Few States Offer Adequate Newborn Screening; Most Fall Short Of March Of Dimes R The metabolic disorders on the recommended list for screening are phenylketonuria(PKU); congenital hypothyroidism; congenital adrenal hyperplasia (CAH http://www.charitywire.com/charity91/print_04211.html

www.CharityWire.com March of Dimes www.marchofdimes.com Tuesday, 29 July 2003 Few States Offer Adequate Newborn Screening; Most Fall Short of March of Dimes Recommendations Only nine states make the grade; 18 states offer only 5 tests or fewer. Every baby born in the U.S. undergoes some newborn screening, but few parents may realize that the number of disorders their baby will be screened for depends entirely on the U.S. state in which the baby is born. The March of Dimes recommended in 2000 that all babies receive screening for a minimum of nine metabolic disorders and be given a hearing test. These screenings can sometimes mean the difference between a healthy start in life and disability, or even death, for a baby. The tests recommended by the March of Dimes lead to reliable diagnosis of conditions for which there is a proven treatment for a newborn's metabolic or hearing deficiency. "While nearly all babies born in the U. S. undergo some newborn screening, the number of screened disorders varies greatly by state," said Dr. Jennifer L. Howse, president of the March of Dimes. "While a few states may screen for even more than these nine metabolic disorders, only nine states now provide all nine tests recommended by the March of Dimes. Expansion of newborn screening has been a March of Dimes priority for three years, and our chapters have worked closely with governors, state legislators, and health departments to increase access to these important tests." The March of Dimes is the first national non-profit health organization to recommend that every baby born in the U.S. receive at minimum screening for the same core group of disorders. The metabolic disorders on the recommended list for screening are: phenylketonuria (PKU); congenital hypothyroidism; congenital adrenal hyperplasia (CAH); biotinidase deficiency; maple syrup urine disease; galactosemia; homocystinuria; sickle cell anemia; and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. The March of Dimes and the American Academy of Pediatrics also advise a hearing test for all newborns.

95. MedicalSource.com_D2R: Your Source For Health - Ehendrick - Ehendrick.com uremia (toxic accumulation of wastes); nutritional deficiencies; phenylketonuria(PKU) can cause Disorders affecting the blood vessels (such as stroke and TIA http://www.ehendrick.com/healthy/000694.htm

96. DBEH Outline Velocardiofacial syndrome; Other genetic disorders. Metabolic disordersPhenylketonuria (PKU); Mucopolysaccharidoses; Purinemetabolism. Endocrine disorders http://www.abp.org/certinfo/subspec/dbeh.htm

97. MediZine Healthy Living phenylketonuria (PKU) can rarely cause seizures in infants; other metabolic diseases Disorders affecting the blood vessels (such as stroke and TIA) most http://www.medizine.com/encyclopedia/Ency.aspx?qu=000694.htm

98. HB2043 - 442R - House Bill Summary One of the metabolic disorders is Phenylketonuria (PKU). This is an inheritedcondition which prevents individuals from normally http://www.azleg.state.az.us/legtext/44leg/2r/summary/h.hb2043_3-02-00_aspassedt

House of Representatives HB 2043 health care insurance; medical foods Sponsors: Representatives Gerard, Knaperek, Preble: Allen, Anderson, Foster, Verkamp DPA Committee on Health W/D Committee on Banking and Insurance DPA Caucus and COW X As Passed the House Mandates health insurance coverage for the treatment of inherited metabolic disorders tested under the newborn screening program. History Established by statute in 1993, the Arizona newborn screening program screens and identifies newborns with any of seven genetic and metabolic disorders and provides follow-up services to prevent serious health problems such as mental retardation or even death. Health care facilities and health care providers are required to submit newborn blood specimens for testing by the contracting testing lab, currently the state lab. The program contracts with medical professionals to provide follow up for families whose babies are found to have a targeted disorder. One of the metabolic disorders is Phenylketonuria (PKU). This is an inherited condition which prevents individuals from normally metabolizing or using phenylalanine (PHE) one of the essential amino acids found in all protein foods.

99. Family LivingValentine S Day Marks Expansion Of Newborn Screening Oklahoma s newborn screening program also screens for the disorders of phenylketonuria(PKU), congenital hypothyroidism, classic galactosemia, and sickle cell http://www.poncacitynews.com/cgi-bin/LiveIQue.acgi$rec=63323?Lifestyle

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