41. Phenylketonuria (PKU) Test, Blood (003491) Phenylketonuria (PKU) Test, Blood (003491). Presence of hyperphenylalaninemiaimplies a disorder of phenylalanine hydroxylation (to tyrosine). http://www.labcorp.com/datasets/labcorp/html/chapter/mono/sr012400.htm

Phenylketonuria (PKU) Test, Blood (003491) CPT Synonyms Phenylalanine Test; PKU; PKU Test Special Instructions State patient's exact age on the request form. Specimen Blood Container Filter paper Collection Causes for Rejection Filter paper not thoroughly saturated; cord blood Reference Interval 0-4 mg/dL Use Evaluate patients for phenylketonuria; monitor therapy with phenylalanine restricted diet Limitations Cases have been missed because blood phenylalanine was not increased, even after the third day of life. Identification of non-PKU forms of hyperphenylalaninemia require additional testing for tetrahydrobiopterin pathway enzyme defects. Not all individuals with increased blood phenylalanine have phenylketonuria. When the infant is tested for PKU before 24 hours of age, there is a 16% chance of missing a positive case. When tested between 24 and 48 hours of birth, there is a 2.2% chance of missing a positive, between 48 and 72 hours, 0.3% chance. Methodology Enzyme immunoassay (EIA) Additional Information Successful detection of phenylketonuria by testing newborns for hyperphenylalaninemia has as its goal the identification of infants subject to central nervous system damage (in particular mental retardation) due to excessive levels of phenylalanine. Once identified, harmful CNS effects can be largely avoided by dietary measures, notably a semisynthetic diet low in phenylalanine. Widespread institution of PKU testing programs, worldwide, is an outstanding public health triumph of the 20th century. Incidence is 1:10,000 to 1:25,000 in the United States. For blacks in Maryland the reported incidence is 1:50,000.

42. Overview Of Newborn Screening For Birth Defects - Lucile Packard Children's Hosp phenylketonuria (PKU) PKU is a recessive disorder which occurs in about one in12,000 live births and is caused by the absence of the enzyme phenylalanine http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/overnew.html

Genetics Clinic Metabolic/Biochemical Genetics Clinic Medical Geneticists Medical Genetics Medical Genetics Overview of Newborn Screening for Birth Defects What is newborn screening? "State newborn screening" refers to a test performed on every baby born in every state of the country within the first few days of life, to detect serious, life-threatening diseases. State laws require that babies be tested between 2 and 7 days of age, even if the baby seems healthy and has no symptoms of health problems. How and why is newborn screening performed? Testing is usually done from a few drops of blood taken from the baby's heel and spotted onto a strip of paper called "filter paper." The filter paper is sent to a laboratory for analysis to determine the presence of certain recessive genetic diseases. Recessive diseases usually occur when healthy parents who unknowingly carry a gene for a recessive disorder, pass the gene to their baby at the same time. The baby inherits two copies of the recessive gene and, therefore, is affected with the condition. The specific diseases tested for in the newborn period are often treatable by special diets and/or medications, increasing the baby's chance for a normal life. It is important to detect these diseases as soon as possible to prevent death, mental retardation, and other disabilities. For those conditions where a special diet is required, such as phenylketonuria (PKU) and galactosemia, a pediatric metabolic specialist and nutritionist are needed to educate parents regarding foods that are appropriate. Parents need to also be educated regarding monitoring the levels of certain compounds in the blood and urine to insure that the infant is not harmed by the disease.

43. Phenylketonuria - A Brief Outline Described as an inborn error of amino acid metabolism, phenylketonuria (PKU) wasthe first genetic disorder found to be due to a specific enzyme deficiency http://www.genefaith.org/ethgen/pages/databases/syndromes/pku.htm

44. Phenylketonuria (PKU) In Bulgaria - LMP Phenylketonuria (PKU, OMIM 261600) is the most common disorder in the groupof inherited metabolic disorders (1/10 0001/15 000 in Europe). http://ivo.medfac.acad.bg/lmp/PKU.htm

Phenylketonuria (PKU , OMIM is the most common disorder in the group of inherited metabolic disorders (1/10 000 1/15 000 in Europe). The phenylalanyne hydroxylase (PAH) gene has been cloned and characterised in 1985 by Kwok et al The most frequent mutation causing classical PKU among Caucasians is the splicing defect in intron 12 leading to amino acid substitution in codon 408. However, more recent studies provide evidence that the molecular basis of PKU is heterogeneous and include more than 200 different mutations. Mutation analysis methods: Screening for the common mutations in the PAH gene was performed by PCR and dot blot ASO hybridization. PCR amplification and direct sequencing were used for detection of rare mutations. Molecular characteristics: Sixteen mutations were detected in classical PKU patients. Three of the mutations (R408W, IVS10nt546, R261Q) were found in 60% of the patients. In 20% the type of mutation is not defined. The results are provided in the t able. N MUTATION BULGARIANS No of alleles TURKS No of alleles GYPSIES No of alleles ARMENIANS No of alleles TOTAL All alleles IVS-4acceptor Ala 322Thr Unknown T ogether with analysis of PKU risk families, we

45. 1Up Health > Inborn Errors Of Metabolism > Recommendations (Branched Chain Ketoa s). Phenylketonuria (PKU) A rare genetic disorder that can resultin severe progressive mental retardation if untreated by diet. http://www.1uphealth.com/health/inborn_errors_of_metabolism_info.html

1Up Health Inborn errors of metabolism Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Inborn errors of metabolism Information Inborn errors of metabolism : Recommendations Alternative names : Branched chain ketoaciduria - nutritional considerations, Fructose intolerance - nutritional considerations, Galactosemia - nutritional considerations, Maple sugar urine disease (MSUD) - nutritional considerations, Phenylketonuria (PKU) - nutritional considerations Definition : Inborn errors of metabolism occur from a group of rare genetic disorders in which the body cannot metabolize food components normally. These disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components. Recommendations Inborn errors of metabolism often demand diet changes. The type and extent of the changes depends on the specific metabolic error. Registered dietitians and physicians can help with the diet modifications needed for each disease. The following are some examples of inborn errors of metabolism: Fructose intolerance A genetic disorder in the breakdown of the carbohydrate fructose. It is potentially life threatening but may be treated by diet changes.

46. Phenylketonuria Management Phenylketonuria (PKU) is among the most common metabolic disorders; it is inheritedas which are also known as phenylketones—hence the name for the disorder. http://www.meadjohnson.com/metabolics/phenylketonuria.html

Phenylketonuria: Background Rebecca S. Wappner, M.D. Director, Metabolism Clinic Team Riley Hospital for Children Indianapolis, IN Phenylketonuria (PKU) is among the most common metabolic disorders; it is inherited as an autosomal recessive trait. PKU occurs in approximately 1 in 12,000 births and, although panethnic, is most common among persons of white Western European background. Phenylketonuria results from deficient activity of the enzyme phenylalanine hydroxylase ( PAH ), which normally converts the amino acid phenylalanine ( phe ) to the amino acid tyrosine ( tyr ). Untreated PKU patients have elevated body fluid levels of phe and phe metabolites (i.e. phenylacetic acid and phenylpyruvic acid), which are also known as phenylketones— hence the name for the disorder. Elevated levels of phenylalanine appear to interfere with brain growth and nerve myelination, resulting in psychomotor handicaps, increased reflexes and motor tone, seizures, autistic-like behaviors, phobias and other psychological problems, and a distinctive "dysmyelination" on magnetic resonance imaging. A distinctive "mousy" body odor results from increased levels of phenylacetic acid, and eczematoid rashes may also occur.

47. Phenylketonuria (PKU, Classical PKU) Phenylketonuria (PKU) is a rare genetic disorder that results in excessive accumulationof the amino acid phenylalanine and reduced levels of the amino acid L http://www.hollandandbarrett.com/Concern/Phenylketonuria.htm

Phenylketonuria Also indexed as: Phenylketonuria (PKU) is a rare genetic disorder that results in excessive accumulation of the amino acid phenylalanine and reduced levels of the amino acid L-tyrosine in the blood. If untreated, high levels of phenylalanine can cause severe mental retardation, behavioural disturbances, and other neurological problems. Eczema sensitivity to sunlight Fortunately, newborn screening programmes now identify most cases of PKU in the United States and other countries. Early diagnosis and treatment is the key to reducing or preventing PKU-related conditions. Gene therapy is currently being researched as a possible cure. Research is also being conducted on methods to decrease levels of phenylalanine in the blood through the use of certain enzymes and amino acids. Conventional treatment options: Conventional treatment consists of strict adherence to a diet low in phenylalanine , in order to prevent a buildup of phenylalanine in the body, and supplementing with the amino acid tyrosine Lifestyle changes that may be helpful: Dietary changes that may be helpful: PKU can be controlled by a diet low in phenylalanine The greatest benefits are achieved when the diet is started in the first few days of life

48. Phenylketonuria An article with full explanation as to what this disease is.Category Health Conditions and Diseases Phenylketonuria......PHENYLKETONURIA (PKU) is an inherited error of metabolism caused by a deficiencyin Classical PKU is an autosomal recessive disorder, caused by mutations in http://www.ncbi.nlm.nih.gov/disease/Phenylketo.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View PAH on chromosome 12 Databases PubMed the literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information National PKU News news and information about PKU GeneClinics a medical genetics resource PHENYLKETONURIA (PKU) is an inherited error of metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase. Loss of this enzyme results in mental retardation, organ damage, unusual posture and can, in cases of maternal PKU, severely compromise pregnancy. Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12. In the body, phenylalanine hydroxylase converts the amino acid phenylalanine to tyrosine, another amino acid. Mutations in both copies of the gene for PAH means that the enzyme is inactive or is less efficient, and the concentration of phenylalanine in the body can build up to toxic levels. In some cases, mutations in PAH will result in a phenotypically mild form of PKU called hyperphenylalanemia. Both diseases are the result of a variety of mutations in the PAH locus; in those cases where a patient is heterozygous for two mutations of PAH (ie each copy of the gene has a different mutation), the milder mutation will predominate. A form of PKU has been discovered in mice, and these model organisms are helping us to better understand the disease, and find treatments against it. With careful dietary supervision, children born with PKU can lead normal lives, and mothers who have the disease can produce healthy children.

49. Newborn Screening: March Of Dimes Newborn Screening Recommendations Phenylketonuria (PKU) All states screen newborns for phenylketonuria (PKU). Babieswith the disorder cannot process a substance called phenylalanine, which is http://209.10.141.228/professionals/580_4043.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 Professional Resources March of Dimes Newborn Screening Recommendations Currently, tests are available for over 30 inborn errors of body chemistry. Babies are not tested for all of these disorders for a number of reasons, including the fact that not all of these disorders are treatable. The March of Dimes would like to see all babies, in all states, screened for at least nine specific inborn errors of body chemistry including: PKU, congenital hypothyroidism, congenital adrenal hyperplasia (CAH), biotinidase deficiency, maple syrup urine disease, galactosemia, homocystinuria, sickle cell anemia, medium chain acyl-CoA dehydrogenase deficiency (MCAD), as well as hearing screening. These 10 disorders can be accurately diagnosed in newborns, and treatment is likely to improve the health of these children. Phenylketonuria (PKU) All states screen newborns for phenylketonuria (PKU). PKU was the nation’s first newborn screening test. Developed with the help of the March of Dimes, it has been routinely administered since the 1960s. PKU affects about 1 baby in 12,000.

50. GGRC - Medical Care Information Advisory Committee. Publication Information. BACKGROUND. back to top. Phenylketonuria(PKU) is a metabolic disorder inherited as an autosomal recessive trait. http://www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=5166

51. Newborn Screening Phenylketonuria (PKU). Phenylketonuria By Claire Leonard, MD. Phenylkentonura (PKU)is an autosomal recessive genetic disorder cased by a deficiency of the liver http://www.health.utah.gov/cshcn/newbornscreening/PKU_Article.htm

Phenylketonuria (PKU) Historical Review Article: Phenylketonuria Dietary Management of Phenylketonuria Phenylketonuria By Claire Leonard, MD Phenylkentonura (PKU) is an autosomal recessive genetic disorder cased by a deficiency of the liver enzyme, phenylalanine hydroxylase. It is common compared to many genetic disorders. An average of 3 children with PKU are born in Utah each year. If these children are not diagnosed and treated in the first weeks after birth, 95% will become severely or profoundly retarded. Hyperactivity, autistic-like behavior, and seizures may also occur. However, PKU can be treated with excellent results. Success depends upon early diagnosis and life-long treatment and monitoring, a difficult task for individuals, families, and medical teams. Well treated children with PKU are generally indistinguishable from other healthy children, although as a group there is a statistically lower IQ than expected from parental quilt, inadequate parenting skills, special medical food refusal, inadequate nutritional counseling, lack of cooking at home, poor cooperation from school, financial limitations, anger, inconsistent medical advice, normal appearance of child, adolescent issues, and lack of services and support for older patients. This results in blood levels above the recommended range at varying ages. The chart below show outcome IQ's compared to mid-parental IQ's as a functions of the age at which adequate metabolic control was lost.

52. Newborn Screening Phenylketonuria (PKU). screening practices. Mid 1930's Identificationof the PKU disorder by Dr. Asbjorn Folling. Social Security http://www.health.utah.gov/cshcn/newbornscreening/PKU_Historical.htm

Phenylketonuria (PKU) Historical Review Article: Phenylketonuria Dietary Management of Phenylketonuria Historical Review Scientific and social advancements in the United States came together in the same time period to foster the development of newborn screening practices. Mid 1930's: Identification of the PKU disorder by Dr. Asbjorn Folling. Social Security Act gave the welfare of children equal footing with that of adults. White House Confernece on Child Health and Protection was held. This conference had a heavy emphasis on the needs and rights of the handicapped. Demonstration of the effect of diet management by Dr. Horst Bickel. Beginning of the development of the bacterial inhibition assay be Dr. Robert Guthrie. 1960's: Parent advocacy groups were begun who were instrumental in formulating initiatives (getting legislation passed) for prevention of mental retardation.

53. Frank D. Lanterman Regional Center In the past, the primary focus of Phenylketonuria (PKU) treatment has been Phenylketonuria,abbreviated PKU, is an inherited metabolic disorder that leads to http://www.lanterman.org/HealthWatch/ClinicalPKU1.htm

Home : Health Watch : PKU Phenylketonuria (PKU) The "PKU: Diet for Life" Program In the past, the primary focus of Phenylketonuria (PKU) treatment has been in infants and children, starting at birth. Frequently, dietary treatment was stopped or relaxed in the teen and adult years. In addition, there were adults with mental retardation born prior to the mid-1960s who were never diagnosed or treated for PKU. Current research is reinforcing the benefits of continuing dietary treatment throughout life for people with PKU. This project focused on the treatment of adults with PKU, particularly those adults who had never been diagnosed or treated. Information and resources were developed to help serve the population of adults with untreated PKU and the service coordinators, care providers, family members, physicians and other professionals caring for them. This project was sponsored by Frank D. Lanterman Regional Center in conjunction with the University Affiliated Program at Childrens Hospital of Los Angeles. Project Outline This program targeted all adults with mental retardation in Lanterman’s catchment area born before 1966 and after 1935 who had never been tested for PKU or who were diagnosed and untreated. The program set out to determine whether or not changes in diet at this more advanced stage in life could result in marked improvement of these consumers’ quality of life.

54. Welcome To The Website For The You are invited to participate in our study investigating attention and memoryin children with phenylketonuria (PKU). PKU is a metabolic disorder in which http://eyes.wustl.edu/pku/

Welcome to the website for the Study of Visual Attention and Memory in Children with Phenylketonuria (PKU) ABOUT THE STUDY You are invited to participate in our study investigating attention and memory in children with phenylketonuria (PKU). PKU is a metabolic disorder in which affected individuals are unable to metabolize phenylalanine, an amino acid that is part of the protein in foods. Previous studies have suggested that the developing brain may be affected by this disorder. Our goal is to understand the extent to which thinking skills are affected in children with PKU. The process of learning new things requires attention and memory. Even simple activities such as crossing the street, playing a video game, or driving a car rely on attention and memory. In order to function in everyday life, we must be able to focus our attention on a given task and ignore potential distractors. Also important is our ability to remember details about our surroundings and where objects or people are located. What would my child have to do?

55. Newborn Screening - Health File #67 those few babies who may have a rare disorder that can Phenylketonuria (PKU); CongentialHypothyroidism (CH); Galactosaemia (GS). About 50,000 babies are tested http://www.healthplanning.gov.bc.ca/hlthfile/hfile67.html

Ministry of Health, Health File #67, November 1998 Newborn Screening Rare disorders can cause mental retardation Three disorders that newborns are tested for Phenylketonuria (PKU) Congenital Hypothyroidism (CH) ... When is the best time for testing? Rare disorders can cause mental retardation In their first week of life, all babies in BC are offered a simple blood test. Just before the baby is discharged from hospital, a small blood sample is taken by a simple heel-prick. This sample is sent to the newborn screening lab for analysis. This is an important test to find those few babies who may have a rare disorder that can cause permanent mental retardation. With early detection and treatment, mental retardation from these rare disorders can be avoided. Babies with these disorders look normal at birth (even after careful examination by a doctor or midwife). That is why the blood test is so important. Three disorders that newborns are tested for: Phenylketonuria (PKU) Congential Hypothyroidism (CH) Galactosaemia (GS) About 50,000 babies are tested for these disorders every year in B.C.

56. Health Library Find Information On Phenylketonuria At Phenylketonuria (PKU) is inherited as an autosomal recessive trait (both parentsmust pass on the is started after 3 years or if the disorder remains untreated http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

57. Columbia Weill Cornell Neuroscience Centers One of the most common metabolic disorders in children is a disorder known as phenylketonuria(PKU), a hereditary disorder in which the body lacks an enzyme http://www.nypneuro.org/healthinfo/pediat1.html

Pediatric Neurology Epilepsy Metabolic diseases - PKU Mental retardation Cerebral palsy ... Congenital disorders of the spine - spina bifida What is epilepsy? Epilepsy, a group of brain disorders that cause recurrent seizures, is common in children and adolescents. In fact, nearly one-third of people diagnosed with epilepsy each year are children. For more information, please see our epilepsy page. One of the most common metabolic disorders in children is a disorder known as phenylketonuria (PKU), a hereditary disorder in which the body lacks an enzyme needed to eliminate excess amounts of an amino acid called phenylalanine. The buildup of this amino acid in the blood stream often leads to severe mental retardation. Recognizing symptoms and diagnosing PKU Newborns rarely shown signs of PKU, although some infants with the disorder may be lethargic and have difficulty feeding. Infants with PKU may have lighter-colored hair, skin, and eyes than other family members, as well as a rash similar to infantile eczema (MM pp. 2396). Older children may develop reflex problems, seizures, extreme hyperactivity, and psychoses. In addition, children with PKU may have a distinct body odor due to the elimination of excess phenylactic acid in urine and sweat.

58. Phenylketonuria PKU is the first metabolic disorder which has been shown to be treatablethrough dietary restriction with a great measure of success. http://www.csmd.ca/pku.htm

Phenylketonuria Home Up [ Phenylketonuria ] Galactosemia Cystinosis Gaucher's Disease Urea Cycle Disorders ... Hereditary Tyrosinemia PKU is the first metabolic disorder which has been shown to be treatable through dietary restriction with a great measure of success. PKU occurs in approximately 1 in every 20,000 live births in North America. In 1965 an American doctor, Dr. Robert Guthrie, created a relatively simple procedure to test for phenylketonuria in newborns. The Guthrie test has been in use worldwide since then, with many children born with PKU growing up to lead normal, healthy adult lives. www.PKUNews.org - A comprehensive website on phenylketonuria www.PKUAdults.com - A website for adults with PKU who are off diet Return to " How many are there? "

59. Advanced Respiratory - Airway Clearance Indications Of Congenital Phenylketonuri Phenylketonuria (PKU) is an inborn error of metabolism that, if left untreated preventor minimize the pulmonary complications associated with this disorder. http://www.thevest.com/conditions/factsheets/congenpku.asp?gs=patients

60. Medical Genetics - Overview Of Newborn Screening For Birth Defects Phenylketonuria (PKU) PKU is a recessive disorder which occurs in about one in12,000 live births and is caused by the absence of the enzyme phenylalanine http://www.chkd.org/Genetics/overnew.asp

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