41. March Of Dimes: PKU References. Introduction. PKU (phenylketonuria) is an inherited disorderof body chemistry that, if untreated, causes mental retardation. http://www.noah-health.org/english/pregnancy/march_of_dimes/birth_defects/pkuinf

Ask NOAH About: Pregnancy PKU Public Health Education Information Sheet Genetic Series Introduction What Is PKU? How Does PKU Affect a Child? Who Gets PKU? ... References Introduction 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 free of mental retardation. 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 PKU 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. Who Gets PKU?

42. The Arc's Q & A On PKU phenylketonuria (PKU). What is PKU? PKU, which stands for phenylketonuria McKusick,1994). QUICK FACTS. Condition phenylketonuria (PKU). Link to mental http://www.thearc.org/faqs/pku.html

Phenylketonuria (PKU) What is PKU? PKU, which stands for Phenylketonuria, is an inherited metabolic disease (also called an inborn error of metabolism) that leads to mental retardation and other developmental disabilities if untreated in infancy. With an inborn error of metabolism, the body is unable to produce proteins or enzymes needed to convert certain toxic chemicals into nontoxic products, or to transport substances from one place to another (Glanze, 1996). The body's inability to carry out these vital internal functions may result in neurological damage. In the case of PKU, the amino acid called phenylalanine accumulates. As phenylalanine builds up in the bloodstream, it causes brain damage. Infants with untreated PKU appear to develop typically for the first few months of life, but by twelve months of age most babies will have a significant developmental delay and will be diagnosed with mental retardation before school entry. How is PKU inherited? PKU is inherited as a single-gene disorder. Single-gene disorders are caused by a mutant or abnormal gene. They can be inherited in one of three patterns: autosomal dominant, autosomal recessive and X-linked. PKU is an autosomal recessive disorder. Each parent of a child with PKU carries one defective gene for the disorder and one normal gene. In a recessive condition, an individual must have two defective genes in order to have the disorder. Individuals with only one copy of a defective gene are called "carriers," show no symptoms of having the disease, and usually remain unaware of their status until they have an affected child. In order for a child to inherit PKU, both parents must be PKU carriers. When this occurs, there is a one in four chance of their producing an affected child with each pregnancy. Boys and girls are equally at risk of inheriting this disorder.

43. Phenylketonuria phenylketonuria (PKU). Test. Bacterial inhibition assay to measure bloodphenylalanine; Using a cutoff level of 4 mg/dL, miss 16% under http://gucfm.georgetown.edu/welchjj/netscut/genetics/PKU.html

Phenylketonuria (PKU) Test Bacterial inhibition assay to measure blood phenylalanine Using a cut-off level of 4 mg/dL, miss 16% under 24 hours, 2% over 48 hours old Guthrie bacterial inhibition test: the prototype of metabolic screening tests relying on bacterial inhibition. Filter paper is saturated with heel-stick blood, allowed to dry, small disks are punched out for use in tests. Bacillus subtilis is spread uniformly on agar. Inhibitory amino acid analogs block specific metabolic pathways. Bacterial can grow only if exogenous amino acids competitively overcome the block. Can test in this manner for phenylalanine, leucine, methionine, galastosemia, histidine, and tyrosine. Antibiotics can also inhibit growth, however, causing false negatives. False positives (1-3% of cases) non-PKU hyperphenylalanemia (1/60,000) pterin defect with secondarily hyperphenylalanemia transient elevation, acute galatosemia False negatives incorrect age, s/p transfusion urine screening unreliable in infants Genetics Autosomal recessive 1:10,000 to 1:25,000 in US

44. Newborn Screening Program - Phenylketonuria phenylketonuria. Definition. phenylketonuria (PKU) is a disorder of amino acidmetabolism 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

45. Phenylketonuria PKU. phenylketonuria is a genetic disease that can cause mental retardation.phenylketonuria What is phenylketonuria? What causes phenylketonuria? http://jhhs.client.web-health.com/web-health/topics/GeneralHealth/generalhealths

46. Phenylketonuria ( PKU ) - DrGreene.com - Caring For The Next Generation Dr. Greene talks about how the sweetener aspartame, and many proteinrich foods,can act like poisons to children with PKU otherwise known as phenylketonuria. 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?

47. Phenylketonuria Information! phenylketonuria (PKU) is a rare, inherited metabolic disease that results in mentalretardation and other neurological problems when treatment is not started http://www.sweetpoison.com/phenylketonuria.html

Phenylketonuria (PKU) - Aspartame Phenylketonuria (PKU) 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. Elevations of blood phenylalanine are dangerous for those with PKU, and require treatment and modification. A child with a level less than 6 mg/dl does not need to be on a special diet and is not risk for mental retardation, but should avoid aspartame at all cost due to the 50% phenylalanine levels. Scientists have been able to show that carriers had higher phenylalanine levels in their urine than non-carriers.

48. Texas Department Of Health-Phenylketonuria Newborn Screening Case Management Program. phenylketonuria (PKU). Whatis phenylketonuria? ¿Que es la fenilcetonuria? Texas Newborn http://www.tdh.state.tx.us/newborn/pku.htm

Newborn Screening Case Management Program Phenylketonuria (PKU) What is Phenylketonuria? ¿Que es la fenilcetonuria? Texas Newborn Screening Program-PKU Schedule of Assessments for Children with PKU ... NIH Consensus Panel Recommends Comprehensive Approach to Life Long Care for PKU People with the rare metabolic disorder phenylketonuria need to adhere to the special diet central to their treatment, concluded a Consensus Panel convened by the National Institutes of Health. The conclusion addresses a long-standing difference of opinion about whether people with phenylketonuria could abandon the diet after early childhood. Application for Formula Assistance If you are a resident of the State of Texas and not eligible for private insurance, CSHCN Medicaid WIC , or CHIP , you may be eligible for financial assistance with PKU formula. Please complete the Application for Assistance with Metabolic Formula in Word or PDF (8KB) and mail to: Newborn Screening Program Texas Department of Health 1100 West 49th Street Austin, Texas 78756

49. Glossary Definition: Phenylketonuria phenylketonuria. phenylketonuria (PKU) is a disease of the nervous system causedby the lack of an enzyme which breaks down the amino acid phenylalanine. http://www.counterbalance.org/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. Contributed by: CTNS Glossary Index To return to the previous topic, click on your browser's 'Back' button.

50. Phenylketonuria MAIN SEARCH INDEX phenylketonuria. 1st ed. New York Pantheon Books, 2001.Schuett, Virginia E. Low Protein Cookery For phenylketonuria. http://www.hendrickhealth.org/healthy/001053.htm

MAIN SEARCH INDEX Phenylketonuria Definition Description Causes and symptoms Diagnosis ... Resources Definition Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH). PKU is the most serious form of a class of diseases referred to as "hyperphenylalaninemia," all of which involve above normal (elevated) levels of phenylalanine in the blood. The primary symptom of untreated PKU, mental retardation , is the result of consuming foods that contain the amino acid phenylalanine, which is toxic to brain tissue. PKU is an inherited, autosomal recessive disorder. It is the most common genetic disease involving "amino acid metabolism." PKU is incurable, but early, effective treatment can prevent the development of serious mental incapacity. Description PKU is a disease caused by the liver's inability to produce a particular type of PAH enzyme. This enzyme converts (metabolizes) the amino acid called phenylalanine into another amino acid, tyrosine. This is the only role of PAH in the body. A lack of PAH results in the buildup of abnormally high phenylalanine concentrations (or levels) in the blood and brain. Above normal levels of phenylalanine are toxic to the cells that make up the nervous system and causes irreversible abnormalities in brain structure and function in PKU patients. Phenylalanine is a type of teratogen. Teratogens are any substance or organism that can cause birth defects in a developing fetus.

51. Preconception Healthcare Resource Center - Parents2B Homepage Arthritis Asthma Cancer Diabetes Epilepsy Heart Disease High Blood Pressure ITPKidney Disease Liver Disease Lupus Medications phenylketonuria Post Partum http://www.b4pregnancy.org/parents2b/topics.asp?catID=184

52. Preconception Healthcare Resource Center - Parents2B Homepage Disorders Nutritional Status Obesity Vitamins and Minerals Family History and GeneticIssues Birth Defects Cystic Fibrosis phenylketonuria Inherited Genetic http://www.b4pregnancy.org/4providers/topics.asp?catID=228

53. Diseases And Conditions -- Discovery Health -- Phenylketonuria phenylketonuria, which is also called PKU, is an inherited condition in whichthe body cannot process a substance called phenylalanine. http://health.discovery.com/diseasesandcond/encyclopedia/1692.html

phenylketonuria By Ronald J. Jorgenson, DDS, PhD, FACMG Phenylketonuria, which is also called PKU, is an inherited condition in which the body cannot process a substance called phenylalanine. PKU is an inborn error of metabolism that can lead to severe mental retardation if it is not treated. What is going on in the body? Phenylketonuria is caused by an enzyme defect in the liver. Normally, the liver produces an enzyme that breaks down phenylalanine. Phenylalanine is a compound found in many foods. The liver of a person with phenylketonuria does not produce this enzyme. When this happens, phenylalanine and its by-products build up in the body. This leads to mental retardation What are the signs and symptoms of the disease? A newborn who has PKU will appear normal. By the age of four months, symptoms of arrested brain development will begin to appear. If the PKU is untreated, severe, irreversible mental retardation will occur. Signs and symptoms of PKU may include the following: abnormal movements, which may be writhing in nature behaviors resembling autism , which is a pervasive developmental delay decreased muscle tone difficulty walking a head that is smaller than normal in size learning disabilities a musty odor due to skin excretion of phenylacetic acid psychotic episodes, in which the person is unable to distinguish reality from fantasy

54. Phenylketonuria 1. phenylketonuria (disorder of amino acid metabolism) a) Biochemical defect deficiencyof phenylalanine hydroxylase, which converts phenylalanine to tyrosine http://kobiljak.msu.edu/CAI/Pathology/Toxic_F/Toxic_3b2.html

Phenylketonuria (disorder of amino acid metabolism) a) Biochemical defect: deficiency of phenylalanine hydroxylase, which converts phenylalanine to tyrosine; increased blood levels of phenylalanine and increased urinary excretion of phenylpyruvic acid. b) Clinical expression: symptoms in infancy or early childhood; mental retardation, seizure and hyperactivity c) Detection: practically all newborns are screened (Guthrie test-serum analysis). d) Therapy: low phenylalanine diet supplemented with tyrosine. e) Pathological Characteristics -hypomyelination; gliosis; microcephaly -no lysosomal storage in neurons Previous Section Course Index Section Index Next Section

55. Phenylketonuria encyclopediaEncyclopedia phenylketonuria, fen ulkEt unoor'Eu PronunciationKey. phenylketonuria (PKU), inherited metabolic disorder http://www.factmonster.com/ce6/sci/A0838731.html

56. Phenylketonuria phenylketonuria. phenylketonuria (PKU) is a rare, inherited, metabolic disorderthat 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.

57. Maternal Phenylketonuria. [NGC:2003] Brief Summary. TITLE Maternal phenylketonuria. SOURCE(S) American Academyof Pediatrics, Section on Genetics. Maternal phenylketonuria. http://www.guideline.gov/FRAMESETS/guideline_fs.asp?guideline=2003

58. Phenylketonuria: Screening And Management. [NGC:1942] Collection Brief Summary. TITLE phenylketonuria screening and management.SOURCE(S) phenylketonuria screening and management. NIH http://www.guideline.gov/FRAMESETS/guideline_fs.asp?guideline=1942&sSearch_strin

59. FamilyFun: Health Dictionary: Phenylketonuria (PKU) An excerpt on phenylketonuria (PKU) from the Disney Encyclopedia ofBaby and Child Care. phenylketonuria (PKU), This is a dangerous http://familyfun.go.com/raisingkids/child/health/childhealth/dony89enc_phen/

Search FamilyFun shortcuts Parenting Tools Field Guide to Parenting Parent Problem Solver Pregnancy Calendar Baby Name Finder ... Article Library Parenting Checklists Immunizations Nursery Planner Holidays All Checklists Parenting Experts Jan Faull, Child Development Dominic Cappello, Learning All Experts parent ... to parent Get tips, support Parenting Boards Expecting Potty Training Sleep Stay-at-Home Moms ... E-Cards Creative. Fun. Free. Catching up is easy to do. Send an E-Card 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?

60. 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.

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