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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

CMCD Knowledge Base
Phenylketonuria (PKU) PKU is a recessive disorder which occurs in about one in10,000 to 25,000 live births and is caused by the absence of the enzyme
http://www.childrens.com/healthinfo/Display.cfm?ID=979&main=931
Amino Acid Disorder Laboratory
of the link between the biochemical and clinical phenotypes with these inborn errors,even for such a frequently studied disorder as phenylketonuria (PKU).
http://neuro-www.mgh.harvard.edu/research/levy.html

Extractions: Harvey L. Levy, M.D. In the inborn errors of amino acid metabolism, mental retardation and other neurologic abnormalities are usually the primary clinical features of the disease. These abnormalities also develop in genotypically normal fetuses as in maternal inborn errors. Therapy which at least partially corrects the amino acid and related metabolite levels prevents or modifies these features. Consequently, there is reason to believe that one or more of the observed biochemical abnormalities produce the disease. However, there is virtually no knowledge of the nature of the link between the biochemical and clinical phenotypes with these inborn errors, even for such a frequently studied disorder as phenylketonuria (PKU). This lack of knowledge hinders our search for improved therapies that could prevent the chronic complications that develop in even treated patients and for therapies for presently untreatable disorders. Information about the nature of these links would be very important for developing these therapies and for advancing our ability to precisely diagnose the disorders and predict prognosis. As an initial phase in examining this biochemical-clinical link, we are identifying and measuring relevant metabolites in brain and other tissues from fetus and neonates with untreated inborn errors such as nonketotic hyperglycinemia (NKH) and galactosemia and from fetus of untreated maternal PKU pregnancies. The metabolites we are examining include amino acids, nucleotide sugars, glycolipids and fatty acids. Results so far indicate that in maternal PKU the toxic metabolite is phenylalanine and that organic acid metabolites of phenylalanine are not present in the fetus and probably play no role in fetal disease. Conversely, in maternal homocystinuria, very little homocyst(e)ine crosses the placenta, thus accounting for the much less severe fetal effect from maternal homocystinuria than from maternal PKU. In galactosemic brain, several galactolipids are markedly deficient, probably reflecting insufficient production because of deficient uridine diphosphate galactose.
PKU Clinic - University Of Washington, Seattle
Abstract Phenylketonuria (PKU) is an autosomal recessive disorder that resultsin the accumulation of phenylalanine in the blood and soft tissues.
http://depts.washington.edu/pku/pro_info/treatGuide.html
Newborn Screening Tests: Keep Kids Healthy
a disorder. It depends on which state you live in as to which diseases your newbornwill be screened for. In all states, at least phenylketonuria (PKU) and
http://www.keepkidshealthy.com/newborn/newbornscreening.html

Extractions: Newborn screening began in 1962, with testing to identify infants with phenylketonuria (PKU). It has since been expanded to include many different endocrinological, metabolic and hematologic disorders, which test over 4 million babies in the United States each year. This testing helps to identify about 3,000 babies with serious diseases each year, so that they can be treated early, usually before symptoms develop. Prior to being sent home from the nursery, newborns have blood drawn (usually by a heel stick) and the specimen is placed on a special filter paper, which can then be sent to a centralized lab for testing. A repeat or second newborn screen is usually performed at a later time, often at the two week checkup, especially if the first test was done in the baby's first twenty-four hours of life. Some states, including Texas, mandate by law that two screens be done.
Mewborn Screening, PKU
PHENYLKETONURIA (PKU) PKU is caused by a metabolic enzyme deficiency which resultsin not have any growth or developmental problems due to their PKU disorder.
http://www.scdhec.net/hs/lab/NewbornScreening/PKU.htm

Extractions: PKU is caused by a metabolic enzyme deficiency which results in excess accumulation of the amino acid phenylalanine in the blood. If this condition is not detected and treated within the first 2-3 months of life, the infant will become mentally retarded. It has been estimated that it would cost the state approximately $30,000 a year to care for an institutionalized mentally retarded individual. Considering a life expectancy of 50 years, this cost would total $1,500,000 for the lifetime of each individual. However, with early detection, dietary treatment with special formula will lower the phenylalanine levels and PKU induced mental retardation will be prevented. SC provides persons with PKU special dietary formula free of charge, at the present time. This policy is subject to change based on availability of funds. The state also provides free follow-up testing, as requested, on blood spot specimens from the affected individual for the rest of their lives. This follow-up testing helps the nutritionist/dietician to monitor the amount of phenylalanine the child or adult is receiving in their diet. Although previously thought that PKU individuals only needed to be on a special diet through puberty, it is now strongly recommended that these individuals adhere to the diet for their entire life. Individuals who adhere strictly to the special diet for the rest of their lives will not have any growth or developmental problems due to their PKU disorder.
Mt Carmel High School Library Genetic Diseases
Metabolic disorder; American Obesity Association; Parkinson's Disease Foundation;National Parkinson Foundation, Inc. The Parkinson's Web; Phenylketonuria (PKU)
http://powayusd.sdcoe.k12.ca.us/pusdmchs/Library/genetic.htm

Extractions: ALS, a motor neuron disease, was first identified in 1869 by the noted French neurologist Jean-Martin Charcot. Although the cause of ALS is not completely understood, the 1990's have brought a wealth of new scientific understanding about the physiology of this disease. World Federation of Neurology Amyotrophic Lateral Sclerosis (ALS)
1998 Annual Report - Triumph Over PKU
tests performed just days after Jared's birth revealed an elevation of phenylalaninewhich can be an indication of a disorder known as phenylketonuria (PKU).
http://www.uhl.uiowa.edu/Publications/AnnualReport/1998/pku_triumph.html

Extractions: 1998 Annual Report - Triumph Over PKU Jared Compiano, a normal healthy boy with PKU, poses with his siblings Hannah and Nathan. Effective medical management of PKU requires diagnosis as soon as possible after birth and rapid initiation of strict low protein diet. To learn how to care for their new son and how to manage his diet, Renee and John rushed Jared to a special clinic in Iowa City where they met with medical specialists experienced in treating children with PKU and other rare metabolic diseases. According to Renee,"the staff at the Metabolic Clinic was wonderful. They reassured us that Jared would be fine, agreed to meet with us on a Saturday (their day off!), and gave us a crash course on PKU and its treatment." Each year our laboratory screening program refers 15-20 infants and their families for diagnosis and treatment of these disorders. The Compianos represent just one of those families who have worked together in a strategic partnership with the laboratory and the medical community to improve the health of Iowa's children. The day-to-day devotion of the Compianos Today Jared Compiano continues to remain on the special diet and his health is excellent. He started kindergarten this fall (1998) after completing an outstanding year of preschool. As his parents were assured in the beginning, Jared is just fine. He is bright, articulate, and much like any other five-year-old boy except for his diet. Renee says,"We couldn't be more proud of him." But Jared is just the beginning of the Compianos' story. On October 4, 1995 the Metabolic Clinic at the UIHC (Jared's follow-up team) alerted the Hygienic Laboratory to the birth of Hannah Compiano, baby sister to Jared. Father John hand-delivered a specimen to the laboratory for immediate screening. Test results were all within normal limits. Then, on July 1,1998 Jared and Hannah welcomed a new baby brother, Nathan. All screening results were within normal limits. The family was gratified to learn that their new babies would not require the diet.
LebanonHealth Conditions / Diseases P
See Breast Problems) Paranoid Personality disorder (See Personality Schizoid, Schizotypal)Pertussis (Whooping Cough) Phenylketonuria (PKU) Phlebitis Phobias.
http://www.lebanonhealth.com/condi/P.htm
New Page 2
When women with phenylketonuria (PKU) a metabolic disorder diagnosed in newborns-do not follow a special diet, their babies are at risk for mental retardation
http://www.cdc.gov/ncbddd/press/pku.htm

Extractions: through newborn screening When women with phenylketonuria (PKU) -a metabolic disorder diagnosed in newborns- do not follow a special diet, their babies are at risk for mental retardation. The results of a small interview study conducted by the Centers for Disease Control (CDC) are released today in the February 15, 2002 edition of the Morbidity and Mortality Weekly Report (MMWR). The article, Barriers to Successful Dietary Control Among Pregnant Women with Phenylketonuria, states that two thirds of the participants in the study were not properly managing their diets at the time they conceived. The prevention of mental retardation associated with PKU has been successful with the aid of newborn screening. Unfortunately, preventing maternal PKU-associated mental retardation is more challenging. Although a special diet for those diagnosed with PKU is recommended for life, it is often discontinued during adolescence. When women with PKU become pregnant and do not follow their diets, their babies are very likely to be affected by mental retardation and other birth defects. These birth outcomes are not caused by PKU in the infant, but by the mother's condition. Most of the birth defects can be prevented in babies if mothers maintain PKU-specific diets before and during pregnancy, Dr. José Cordero, Director, National Center on Birth Defects and Developmental Disabilities, said the CDC study indicates several barriers might complicate affected womens ability to follow the lifelong diet, including cost, adverse tastes, and poor adherence to medical recommendations. To ensure that women with PKU have healthy babies, it is critical that women stay on their special diets and that we find effective ways to help them and their babies, Cordero said. To successfully prevent maternal PKU-associated mental retardation, these barriers must be addressed.
Birth Defects & Genetics: Common Forms Of Inheritance
Phenylketonuria (PKU), a metabolic disorder primarily affecting Caucasians.XLinked Recessive Inheritance The X and Y chromosomes
http://modimes.org/pnhec/4439_4136.asp

Extractions: If both parents are carriers of the same recessive gene that can cause a birth defect, there is a one-in-four chance that each of their children will inherit the problem. If only one parent passes on the gene for the disorder, the normal gene received from the other parent will prevent expression of the condition.
Pregnancy Dictionary From EPregnancy: What Is Phenylketonuria (PKU)?
A genetic liver enzyme disorder that may be regulated by a careful diet. Women withan inborn error of body chemistry called phenylketonuria (PKU) also are at
http://epregnancy.com/dictionary/Definitions/198.htm
Birth Disorder Information Directory - P
See Phenylketonuria. Phenylketonuria (PKU) List of Sites. Phocomelia List of Sites. SeeWeissenbacher Zweymuller Syndrome. Pigmentary disorder with Hearing Loss
http://www.bdid.com/defectp.htm

Extractions: HOME P-4 Deletion Syndrome p47-PHOX, Deficiency of p67-PHOX, Deficiency of Pachydermopreiostosis (Hypertrophic Osteoarthropathy, Primary or Idiopathic) Pachyonychia Congenita Pagod Syndrome Pagon Bird Detter Syndrome (Anemia Sideroblastic Spinocerebellar Ataxia) Pagon Syndrome Pallister Syndrome Pallister Hall Syndrome (Hypothalamic Hamartoblastoma, Hypopituitarism, Imperperforate Anus, and Postaxial Polydactyly) Pallister Killian Syndrome V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2
Caring For Your Baby: Testing The Newborn For Metabolic Birth Defects
Galactosemia Babies with this disorder cannot convert galactose, a sugar The disordersare Phenylketonuria (PKU); Congenital hypothyroidism; Congenital adrenal
http://www.modimes.org/pnhec/298_834.asp
The AWARE Foundation - A Common Sense Secret To A Safer Pregnancy And A Healthie
Finally, if you have phenylketonuria (PKU), a disorder that prevents the liver frommetabolizing a certain amino acid called phenylalanine, you will need to
http://www.awarefoundation.org/aware/articles/safer_pregnancy.asp

Extractions: Search the Web During your preconceptional visit, your practitioner can point out any special hazards you and your future baby may face. He or she can offer you testing, immunizations, counseling, nutritional therapy, or other treatment to help ward off problems before they happen. Among the women most likely to benefit from preconceptional care are those with diabetes, phenylketonuria (PKU), and certain infectious or hereditary diseases. However, because spontaneous miscarriages occur in about 25% of all pregnancies, it makes sense to schedule a pre-pregnancy exam even if you do not fall into any high-risk categories. Don't be surprised if your health care provider offers you preconceptional care on a routine gynecologic visit. Unintended pregnancies do happen. Staying healthy and informed "just in case" while you are in your reproductive years can be a big benefit. In addition, your healthcare provider can offer you valuable general or pre-pregnancy contraceptive advice during your preconceptional visit. Why Preconceptional Care Can Be Vital
The Mid-Atlantic Connection For PKU And Allied Disorders
Group gives support to those with metabolic disorders, including tyrosinemia. View personal stories and access recipes.
http://www.pkumac.org/
Medical References: PKU
Quick Reference and Fact Sheets. PKU PKU (phenylketonuria) is an inheriteddisorder of body chemistry that, if untreated, causes mental retardation.
http://www.marchofdimes.com/pnhec/681_1219.asp

Extractions: 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 untreated PKU who have suffered central nervous system damage 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.
Metabolic Disorders
Phenylketonuria (PKU) and HPA Phenylketonuria (PKU) is a hereditarydisorder of metabolism of phenylalanine. A related condition
http://rarediseases.about.com/cs/metabolic/
Glossary
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) disorderthat is present when an infant does not have an enzyme necessary for the
http://www.lamaze.com/tools/glossary/0,9472,176132,00.html

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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

Extractions: 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.
Phenylketonuria ( PKU ) - DrGreene.com - Caring For The Next Generation
go. QUICK SEARCH.
http://www.drgreene.com/21_1156.html

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