Geometry.Net - Basic_P: Phenylketonuria-pku Disorder


Home - Basic_P - Phenylketonuria-pku Disorder

e99.com Bookstore

Images

Newsgroups

21-40 of 87 Back | 1 | 2 | 3 | 4 | 5 | Next 20

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 Disorder: more detail

21st Century Ultimate Medical Guide to Phenylketonuria (PKU) - Authoritative Clinical Information for Physicians and Patients (Two CD-ROM Set) by PM Medical Health News, 2009-06-05

Phenylketonuria (PKU) Toolkit - Comprehensive Medical Encyclopedia with Treatment Options, Clinical Data, and Practical Information (Two CD-ROM Set) by U.S. Government, 2009-06-05

2009 Empowered Patient's Complete Reference to Phenylketonuria (PKU) - Diagnosis, Treatment Options, Prognosis (Two CD-ROM Set) by PM Medical Health News, 2009-06-05

Management of PKU

Treatment programs for PKU and selected other metabolic diseases in the United States: A survey (DHHS publication) by Virginia E Schuett, 1983

A journey into the world of PKU by Kenneth W Wessel, 1991

S.B. 3018: Mandatory screening tests for PKU (University of Washington. School of Law. Student papers) by David Ward, 1974

lists with details

Phenylketouria / PKU : à»ç¹âÃ¤¤ÇÒÁ¼Ô´»¡µÔâ´Â¡Óà¹Ô´
DEFINITION Phenylketonuria (PKU) is a genetic disorder that is characterized byan inability of the body to utilize the essential amino acid, phenylalanine.
http://thailabonline.com/pku.htm

Extractions: Shopping Health Products - à¤×èÍ§ÇÑ´¤ÇÒÁà¢éÁáÊ§ Photometer - - ¡ÅéÍ§¨ØÅ·È¹ì - Microscope - - à¤×èÍ§´Ù´»ÔÁÒ³ÊÒ/Autopipette - - ªØ´ªèÇÂà¨ÒÐàÅ×Í´»ÅÒÂ¹ÔéÇ /Lancet - - ªØ´µÇ¨¡ÒµÑé§¤Àì/ Pregnancy - - ªØ´µÇ¨ËÒÊÒàÊ¾µÔ´-DrugAbuse - - ªØ´µÇ¨äÇÑÊµÑºÍÑ¡àÊº/Hepatitis B - - ªØ´µÇ¨äÇÑÊµÑºÍÑ¡àÊº/Hepatitis C - - ªØ´µÇ¨ËÒÇÑ¹ä¢èµ¡/ Ovulation test - - ªØ´µÇ¨¡Í§¡Òà¡Ô´ÁÐàç§/ Tumor- - ªØ´µÇ¨ËÒ¡ÒµÔ´àª×éÍäÇÑÊ HIV - - ªØ´µÇ¨¡ÒµÔ´àª×éÍ«Ô¿ÔÅÔÊ /VDRL - - ªØ´µÇ¨¡ÒµÔ´àª×éÍÁÒÅÒàÕÂ/ Malaria - - ¹éÓÂÒµÇ¨ËÒËÁÙèâÅËÔµ ABO / Rh - - ªØ´·´ÊÍºâ´ÂÇÔ¸Õ EIA - top
News Release: NIH Consensus Panel Recommends Comprehensive Approach To Life Long
Phenylketonuria (PKU) is an inherited disorder that, if untreated, causesprofound mental retardation as well as other medical problems.
http://consensus.nih.gov/news/releases/113_release.htm

Extractions: 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. Phenylketonuria (PKU) is an inherited disorder that, if untreated, causes profound mental retardation as well as other medical problems. The disorder, which affects about one of every 15,000 infants in the United States, usually results from a deficiency of an enzyme known as phenylalanine hydroxylase. This deficiency leads to elevated levels of the amino acid phenylalanine (Phe) in the bloodstream. Screening newborn infants for PKU is standard practice throughout many parts of the world. "As a result of the screening programs that began nearly 40 years ago, thousands of children with PKU have been identified and treated," said R. Rodney Howell, M.D. Chairman of the Consensus Panel. "Most of these children have grown into healthy adults when they would otherwise have developed mental retardation and other problems associated with PKU."
Phenylketonuria (PKU) General Overview
Site Directory Phenylketonuria (PKU) General Overview Page. A. PKU is anenzymatic disorder that affects the way the body processes protein.
http://www.doh.wa.gov/ehsphl/phl/newborn/pkugo.htm

Extractions: You are here: DOH Home EHSPHL Home PHL Home NBS Home »PKU General Overview Page Search Employees Site Directory: Phenylketonuria (PKU) General Overview Page Disorders Health Professional's Page Parents Page Related Links ... Contact NBS What should I know about PKU? Below are some frequently asked questions. If the information contained on this page does not answer all of your questions or you would just simply like more information, please check out the Clinical Description Related Links pages or contact us with your specific question. (click here for printer friendly version of this information in pdf format) PDF files can be viewed/printed with Acrobat Reader. What is phenylketonuria or PKU? Q. What is phenylketonuria or PKU? A. PKU is an enzymatic disorder that affects the way the body processes protein. Children with PKU cannot process a part of the protein, the amino acid called phenylalanine. As a result, phenylalanine builds up in the bloodstream and causes damage to the developing brain. Q. How does the body normally process phenylalanine?
BBlue Diaper Syndrome And Phenylketonuria Maisa Haddad
amino acid metabolism. One of interest and that was not limited on informationwas the phenylketonuria (PKU) disorder. This was also
http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997 Case Studies/M Haddad.

Extractions: Blue diaper syndrome is an inborn error of amino acid metabolism. The amino acid tryptophan is malabsorped in the intestinal lining of newborn infants. The syndrome is known to be an autosomal recessive trait. It is believed that a mutation in the tryptophan transport protein causes a baby's diaper to turn blue once the urine touches the diaper. This was caused by the bacteria that acted on urine precursor's to produce a compound that turned indigo blue upon contact with air.Unfortenutely there was limited information on blue diaper syndrome , but there were other disorders that were caused by inborn error's of amino acid metabolism. One of interest and that was not limited on information was the phenylketonuria (PKU) disorder. This was also caused by inborn error's of amino acid metabolism. It is caused by the deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH).The amino acid phenylalanine is malabsorped because there is low concentration's of the PAH enzyme. Since there are low concentration of this enzyme , the amino acid is not being absorbed like it normally should. Therefore, there is an accumulation of the phenylalanine in the serum, which causes mental retardation in newborns. The difference with PKU is that there is lots of information on the disorder and actual experiments that have been done. An example is the RFLP hapotype analysis of the PAH locus in a German PKU family . A novel MspI site in one of the mutant alles was observed. The site was caused by a T to C transition in exon 9 of the gene and resulted in the substitution of leucine by proline at residue 311 of the protein (Konecki 2882). Mutagenesis and expression analyses have verified that the amino acid subsitution caused the lack of accumulation of the corresponding protein and the neucleotide substitution must represent a novel mutation in the PAH gene that causes PKU(konecki 2883). DNA sequencing of a fragment of the normal and mutant human PAH showed the T to C transition within the exon 9 gene.
Gene Stories - Health
This baby has been screened for Phenylketonuria (PKU). The test is positive. To developthis genetic disorder, the baby will have inherited a faulty gene from
http://www.bbc.co.uk/health/genes/road/childhood/newborn_pku.shtml

Extractions: Childhood Index Birth Deformities / Phenylketonuria (PKU) / Mixed race Phenylketonuria (PKU) It can take a bit more detective work to pick up other genetic problems. All newborn babies are routinely screened for a number of inherited diseases such as sickle cell anaemia or phenylketonuria, by taking a small sample of blood from their heel. If there is also a known risk of another particular genetic disorder, additional tests can be done. These tests are very important as early treatment of some conditions greatly improves the quality of life of the child. This baby has been screened for Phenylketonuria (PKU). The test is positive. To develop this genetic disorder, the baby will have inherited a faulty gene from both its mother and father. PKU results in a defect in a specific protein - an enzyme called phenylalanine hydroxylase - which normally converts the amino acid phenylalanine into another one called tyrosine. In a child with PKU, levels of the enzyme are low and the chemical reaction to convert phenylalanine to tyrosine is limited. Because of this chemical block, children with PKU have a build up of phenylalanine in the blood and other body tissues, particularly the brain, where it can be very dangerous.
KinderStart - Health/Medical/Dental : Major Diseases/Conditions : Phenylketonuri
Children's PKU Network PKU or phenylketonuria is a metabolic disorder related to IconAdd/View Comments (0) Rate this Site; Phenylketonuria (PKU) PKU is a
http://www.kinderstart.com/healthmedicaldental/majordiseasesconditions/phenylket

Extractions: 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.
Maternal Phenylketonuria (RE0024)
Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine (Phe) metabolismassociated with deficient activity of phenylalanine hydroxylase (PAH
http://www.aap.org/policy/re0024.html

Extractions: Policy Statement Pediatrics Volume 107, Number 2 February 2001, pp 427-428 Maternal Phenylketonuria (RE0024) AMERICAN ACADEMY OF PEDIATRICS Committee on Genetics ABSTRACT. Elevated maternal phenylalanine levels during pregnancy are teratogenic and may result in growth retardation, significant psychomotor handicaps, and birth defects in the offspring of unmonitored and untreated pregnancies. Women of childbearing age with all forms of phenylketonuria, including mild variants such as hyperphenylalaninemia, should receive counseling concerning their risks for adverse fetal effects optimally before conceiving. The best outcomes occur when strict control of maternal phenylalanine levels is achieved before conception and continued throughout the pregnancy. ABBREVIATIONS. PKU, phenylketonuria; Phe; phenylalanine; PAH, phenylalanine hydroxylase. Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine (Phe) metabolism associated with deficient activity of phenylalanine hydroxylase (PAH) and elevated levels of Phe and Phe metabolites. Untreated, the disorder results in severe to profound psychomotor handicaps, seizures, autistic-like behaviors, microcephaly, rashes, pigment dilution, and unusual body odors. Since the 1960s, newborn screening for PKU has allowed early detection and treatment of the disorder. Current treatment consists of dietary therapy that uses special medical foods that are devoid of or low in Phe and that are supplemented with tyrosine, the product of PAH activity. Depending on the degree of control during early childhood, most affected children have psychomotor development comparable to that of their peers at school entrance. Although dietary control is recommended for life, loss of dietary compliance frequently starts during mid childhood. By late adolescence, many affected persons, including females capable of reproduction, have stopped using special medical foods, and most have blood Phe levels above the current recommended therapeutic range.
PKU
screening related websites. SEARCH OUR SITE. Phenylketonuria (PKU)An Amino Acid disorder What is it? Phenylketonuria (PKU) is a
http://www.savebabies.org/diseasedescriptions/pku.htm
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

Extractions: 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. 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. 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
InteliHealth: In Phenylketonuria
Phenylketonuria (PKU) is a rare genetic disorder that can cause abnormal mentaland physical development if not promptly detected and appropriately treated.
http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/10335.html
Phenylketonuria (PKU)
PHENYLKETONURIA (PKU). Classical PKUis an inherited recessive autosomal disorder(chromosome 12) with an incidence of 127,000 in California (115,000 in
http://www.dhs.cahwnet.gov/pcfh/GDB/html/NBS/Phenylketonuria(PKU).htm

Extractions: GENETIC DISEASE BRANCH GDB Home Page NBS Home Page Comments The California Newborn Screening Program PHENYLKETONURIA (PKU) High blood phenylalanine levels are indicative of one of the following categories of disorders in its metabolic pathway: classical PKU, hyperphenylalaninemia, and co-factor variant defect. Classical PKU is an inherited recessive autosomal disorder (chromosome 12) with an incidence of in California (1:15,000 in Caucasians, less common in other races). California's lower birth prevalence is due to the preponderance of non-Caucasian births. Since 1966, when PKU screening began, more than 500 cases have been detected. The disorder is due to a lack of phenylalanine hydroxylase; this is an enzyme needed to metabolize the amino acid phenylalanine to tyrosine (another amino acid); tyrosine is a precursor for such important biochemical products as serotonin, catecholamines, thyroid hormone, and melanin. This enzyme deficiency leads to high levels of phenylalanine and low levels of tyrosine, causing: Dietary restriction of phenylalanine (phe), begun within the first few weeks of life, will result in normal development. This is accomplished by replacing most dietary protein with a supplementary formula containing adequate amounts of essential amino acids other than phenylalanine. Phenylalanine can be found in all foods containing protein. By eliminating overtly proteinaceous foods, aspartame (NutraSweetÓ ), and wheat products containing gluten, blood phe levels can be significantly reduced. Since phenylalanine is an essential amino acid, it should not be totally omitted from the diet: too low a phe level is not healthy, either. The recommended phe-level range is 120 to 360 mmol/L (2 to 6 mg/dl) for children.
PHENYLKETONURIA (PKU)
2) Biopterin deficiency (less than 5% of the patient population) Defects in theproduction of a cofactor, tetrahydrobiopterin, result in a PKU-like disorder.
http://www.tdh.state.tx.us/newborn/p_pku.htm

Extractions: Infants with untreated PKU may appear normal in the first few months of life. About 24 hours after the first protein feeding the level of phenylalanine begins to rise to toxic levels. Vomiting (occasionally projectile) may be one of the first signs. By one year of age, mental and motor retardation, microcephaly, poor growth rate and seizures or tremors will be evident. Inadequate production of tyrosine (a precursor to pigment formation) results in lighter hair and skin than other family members. The skin may be oily and eczematous. If treatment is not initiated early, most individuals with PKU will achieve an I.Q. of less than fifty. Causes:
Texas Department Of Health, Newborn Screening Slide Presentation
Female infants who have virilization of the genitalia may require surgical correction.Phenylketonuria (PKU). An inherited disorder of protein metabolism.
http://www.tdh.state.tx.us/newborn/nbstext.htm

Extractions: Bureau of Childrens Health Texas Newborn Screening Program Newborn Screening is an essential, preventive public health program for early identification of disorders that can lead to catastrophic health problems. The disorders screened by the Texas Newborn Screening Program (NBS) are chosen because: the disorder occurs with significant frequency the affected baby may appear normal at birth NBS Goals Each baby born in Texas receives two newborn screening tests, the first within the first 72 hours of life (preferably after 36 hours of age and 24 hours after the first protein feeding), or before hospital discharge and the second test at one to two weeks of age. All infants with an abnormal screen receive prompt and appropriate confirmatory testing. All individuals diagnosed with newborn screening disorders are maintained on appropriate medical therapy. Achieving these goals requires coordinated efforts from three groups: Clinicians
PKU - The Disorder
Prevention is better than Treatment. Phenylketonuria (PKU). Phenylketonuria(PKU) is a disorder caused by an inborn error of metabolism.
http://www.rddiagnostics.com/pku_disorder.htm

Extractions: Prevention is better than Treatment Phenylketonuria (PKU) Phenylketonuria (PKU) is a disorder caused by an inborn error of metabolism. Its rate of incidence is approximately one in 10,000 newborns in the United States. Classical PKU is characterized by a highly elevated blood Phenylalanine concentration which results from the absence of the hepatic enzyme Phenylalanine hydroxylase (EC 1.14.16.1). The resulting increased circulating concentration of Phenylalanine, if left untreated, can result in a variety of symptoms - the major one being mental retardation. Once diagnosed, treatment with a special diet that restricts dietary Phenylalanine should be initiated promptly. Delays in treatment have been correlated with increases in the severity of the retardation. Scriver, C.R., Kaufman, S., and S.L.C. Woo. In, The Metabolic Basis of Inherited Diseases I , C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, Eds., Sixth Edition, McGraw Hill, 1989, p. 495. Jervis, G.A. 1953 Proc. Soc. Exp. Biol. Med
Diabetes And Hypoglycemia Forum On Compuserve Home Page
PKU Phenylketonuria PKU Phenylketonuria Keywords PKU PKU PHENYLKETONURIA RONNIEAMINO capture of data search on this special disorder With acknowledgmenats to
http://ourworld.compuserve.com/homepages/diabetes_forum/forum/fullindex.htm

Extractions: This file has everything you ever wanted to know about Multiple Personality Disorder but were afraid to ask. It includes the entire text from the DSM-III-R (the Diagnostic and Statistical Manual of Mental Disorders, Third Edition, Revised; American Psychiatric Association) about MPD and many of the notes from a graduate class in Theories and Research in Psychopathology.
FamilyFun: Health Dictionary: Phenylketonuria (PKU)
PHENYLKETONURIA (PKU), This is a dangerous but damage will occur. PKU isa genetic disorder with a recessive inheritance pattern. If both
http://familyfun.go.com/raisingkids/child/health/childhealth/dony89enc_phen/

Extractions: 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?
Pregnancy And Phenylketonuria (PKU)
Pregnancy and Phenylketonuria (PKU). Gabriella Pridjian, MD. Girlsor pregnancy. PKU is an autosomal recessive genetic disorder. PKU
http://www.lsuhsc.edu/no/centers/genetics/hereditaryhealing/article_pregnancy_PK

Extractions: Pregnancy and Phenylketonuria (PKU) Gabriella Pridjian, MD The most critical time period of fetal development is during the first three months of pregnancy when the organs systems form. It is believed that it is during this time period that high phenylalanine and its metabolites in the mothers' blood plasma can cross the placenta and directly effect the developing embryo by inducing birth defects. However, in the latter months the fetal brain continues to mature and abnormally high levels of phenylalanine can also influence brain development at that time. Therefore, it is important to maintain normal blood phenylalanine levels throughout pregnancy. Ideally, girls or women with PKU should have counseling and dietary adjustments before becoming pregnant. For those girls who have been on a low phenylalanine diet all along, preparing for pregnancy becomes easy, because they are essentially already metabolically prepared. The ideal range for plasma phenylalanine levels before and during pregnancy is 2 to 8 mg/dl, the same range that is considered excellent control in a nonpregnant individual. Girls who are not on a low phenylalanine diet at the time they decide they want to be pregnant have a more difficult time adhering to the diet, but it is possible.
Pediatric Oncall - Phenylketonuria (PKU)
PHENYLKETONURIA (PKU) UserName, Password. The specific type of mutation varies,resulting in variable severity in the clinical course of the disorder.
http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/pku.asp

Extractions: Question of day Alternative Medicine Journals Queries ... Shopping Mall PHENYLKETONURIA (PKU) UserName Password New Register Dr. Swati Kolpuru, DCH. INTRODUCTION Phenylketonuria is an inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase that is responsible for processing the essential amino acid phenylalanine and leads to elevated levels of phenylalanine and phenylalanine metabolites. PKU is inherited as an autosomal recessive trait. The mutation that causes PKU is located on chromosome 12. The specific type of mutation varies, resulting in variable severity in the clinical course of the disorder. Newborn screening is very important for the diagnosis of this disease and has largely eliminated mental retardation caused by this disease. SYMPTOMS Symptoms in newborn Symptoms are usually absent May be abnormally drowsy or listless Feeding difficulty Light hair, skin and eyes
EPEC - Educating Parents Of Extra-special Children - Phenylketonuria (PKU)
Phenylketonuria (PKU). Phenylketonuria (PKU) is an inherited (genetic)disorder that is inherited from both parents. About one in
http://www.epeconline.com/PKU.html

Extractions: needs and parents with special needs children. Phenylketonuria (PKU) is an inherited (genetic) disorder that is inherited from both parents. About one in every 15,000 children born in the US has PKU. People with PKU don't have sufficient working abounts of a liver enzyme called phenylalanine hydroxylase (works in the body to convert phe to tyrosine) so to stay healthy they must follow a strict diet. This diet will limit the phenylalanine (phe), a common part of most foods, one of many amino acids that join together to form proteins. Normally when a person eats foods containing protein, their body uses the amino acids from that protein for growth and repair of body tissues. We usually eat more amino acids than our bodies need. These excess amino acids are changed by enzymes into other compounds or are used for energy. Since individuals with PKU are missing the enzyme for phe breakdown, phe builds up in the blood and can damage the brain. If phe levels in the blood stay too high for a long time, the damage to the developing brain is severe and irreversible.
Pku
Phenylketonuria (PKU) is a genetic disorder that is characterized by an inabilityof the body to utilize the essential amino acid, phenylalanine.
http://www.geocities.com/delilah_edmonds/pku.html

Extractions: Phenylketonuria Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine. In order for a baby to be born with PKU, they must recieve a recessive gene from each parent. A parent usually does not know that they are a carrier of this disorder. Babies with PKU will appear normal at birth. Some will have blue eyes and lighter hair and skin than the other members of the family. Early symptoms of PKU are vomiting, irritability, a eczema-like reach, and a mousy ordor to the urine. Some babies have some signs of nervous system problems like an increased muscle tone or a more active muscle tendon reflexes. Then, later, severe brain problems occur like mental retardation and seizures. Untreated children have some common features such as a small head, prominent cheek and upper jaw bones. They have widely spaced teeth with poor tooth enamel and decreased body growth. Today, all newborn babies in the US are tested for PKU. This ensures early treatment and prevents the symptoms of PKU from developing. The babies heel is pricked and blood is placed on a card and mailed in for testing. If a baby has high levels of phenylalanine in the blood, other tests will be done.

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

21-40 of 87 Back | 1 | 2 | 3 | 4 | 5 | Next 20