Subtypes


Web

  • https://en.wikipedia.org/wiki/Phenylalanine_hydroxylase_deficiency
  • For other uses, see PKU (disambiguation).
  • http://www.aafp.org/afp/1999/1001/p1462.html
  • If the first phenylalanine test demonstrates positive results, a repeat test should be performed.
  • http://www.drugs.com/mcd/phenylketonuria-pku
  • PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.
  • http://www.genome.gov/25020037
  • Newborn screening has been used to detect PKU since the 1960's.
  • http://www.encyclopedia.com/topic/phenylketonuria.aspx
  • 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.
  • http://www.nhsinform.co.uk/health-library/articles/p/phenylketonu...
  • Phenylketonuria (PKU) is a rare genetic condition that's present from birth (congenital).
  • http://www.pennmedicine.org/encyclopedia/em_DisplayArticle.aspx?g...
  • Other symptoms may include:
  • http://www.childrensHospital.org/conditions-and-treatments/condit...
  • Here at Boston Children's Hospital, our multidisciplinary team is ready to help you and your child with the challenges of having phenylketonuria(PKU).
  • http://www.nhs.uk:80/conditions/Phenylketonuria/Pages/Introductio...
  • Phenylketonuria (PKU) is a rare genetic condition that's present from birth (congenital).
  • http://www.uwhealth.org/health/topic/special/phenylketonuria-pku/...
  • If PKU is not treated, phenylalanine can build up in the blood and lead to intellectual disability and problems with the central nervous system (brain and spinal cord).
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    News

    Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria
    Nature - Thursday, March 7, 2019
    American Gene Technologies Granted FDA Orphan Drug Designation For Phenylketonuria
    EIN News - Friday, October 19, 2018
    Treating phenylketonuria now Phe-sible with engineered bacteria?
    Science Mag - Friday, August 31, 2018
    Palynziq (pegvaliase-pqpz) for the Treatment of Phenylketonuria
    Drugdevelopment-Technology.com - Thursday, August 9, 2018
    FDA approves new drug to treat rare disease PKU 4 days ago ago FRIDAY, May 25, 2018 (HealthDay News) -- Palynziq (pegvaliase-pqpz) has been approved by the U.S. Food and Drug Administration to treat phenylketonuria, commonly called PKU.
    United Press International - Thursday, May 31, 2018
    FDA approves new drug to treat rare disease PKU 3 days ago ago FRIDAY, May 25, 2018 (HealthDay News) -- Palynziq (pegvaliase-pqpz) has been approved by the U.S. Food and Drug Administration to treat phenylketonuria, commonly called PKU.
    United Press International - Wednesday, May 30, 2018
    FDA approves new drug to treat rare disease PKU 1 day ago ago FRIDAY, May 25, 2018 (HealthDay News) -- Palynziq (pegvaliase-pqpz) has been approved by the U.S. Food and Drug Administration to treat phenylketonuria, commonly called PKU.
    United Press International - Monday, May 28, 2018
    FDA approves new drug to treat rare disease PKU
    United Press International - Monday, May 28, 2018
    FDA Approves Palynziq for Phenylketonuria
    Physicians Briefing - Monday, May 28, 2018
    New Treatment Approved for Rare Disease PKU
    Health Day - Monday, May 28, 2018
    FDA approves a new treatment for PKU, a rare and serious genetic disease
    EIN News - Friday, May 25, 2018
    BRIEF-PKU Healthcare announces 2017 dividend payment
    EIN News - Monday, April 23, 2018
    BRIEF-PKU Healthcare to sell 41 pct stake in a Beijing-based cancer hospital management firm
    EIN News - Thursday, October 26, 2017
    BRIEF-PKU Healthcare sees 2017 Q1 to Q3 net profit to increase by 80 pct to 114 pct
    EIN News - Monday, October 16, 2017
    PKU funding battle: Family wins High Court challenge over drug
    BBC - Wednesday, August 9, 2017
    BRIEF-PKU Healthcare sees H1 FY 2017 net profit to up 80 pct to 114 pct
    EIN News - Friday, July 14, 2017
    Medical News Today: Phenylketonuria: Symptoms, tests, and treatment
    Medical News Today - Monday, June 19, 2017
    Phenylketonuria (PKU) Market North America (US, Canada and Mexico) Research Report 2017 Analysis and Forecast to 2022
    EIN Presswire - Saturday, May 6, 2017
    MORE NEWS

    Videos

    CanPKU - Helping Canadians with Phenylketonuria (PKU)
         
    John Adams, CEO and President of CanPKU , a Canadian based non profit organization dedicated to promoting awareness and education of phenylketonuria (PKU) recently talked with Rare Disease Report about his organization. PKU is a rare, inherited (autoso...

    Lab Lingo: How do you say Phenylketonuria (PKU)?
         
    Listen in as Dr. McBride discusses phenylketonuria (PKU). Learn more about PKU (here: http://bit.ly/1AHwCO9) and about Dr. McBride's work (here: http://bit.ly/1AHwCOj). Click here for more information about newborn screenings (http://bit.ly/1AHwDl7) or a...

    NIH VideoCast - NIH Consensus Development Conference on Phenylketonuria (PKU): Screening and Management (Day 2)
         
  • PKU is a rare, inherited metabolic disorder that, if untreated, causes mental retardation.

  • First person with PKU to be treated successfully
         
    The first person with PKU to be treated successfully with a phenylalanine-restricted diet. Canadians affected by rare, brain-threatening disorder mark first PKU Awareness Month in May. http://www.newswire.ca/en/story/970647/canadians-affected-by-rare-brai...

    PKU (Phenylketonuria)
         
    At the Center for Rare Disease Therapy, every child diagnosed with a rare disease receives an individualized treatment plan and family-centered care. For an appointment, consultation, or patient referral with an expert at Children’s Hospital of Pittsbur...

    Santayana's Lament: Ethical Issues in Genetic Screening
         
    Using PKU, CF and sickle cell disease as clinical examples, Dr. Norman Fost discusses the ethical issues surrounding genetic screening. For more information, visit: http://www.seattlechildrens.org/bioethics/

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    Images

    Pathophysiology of phenylketonuria, which is due to the absence of functional phenylalanine hydroxylase (classical subtype) or functional enzymes for the recycling of tetrahydrobiopterin (new variant subtype) utilized in the first step of the metabolic pa
    Phenylketonuria is inherited in an autosomal recessive fashion
    220px Phenylketonuria testing
    Phenylketonuria test
    Phenylketonuria test
    Pathophysiology of phenylketonuria, which is due to the absence of functional phenylalanine hydroxylase (classical subtype) or functional enzymes for the recycling of tetrahydrobiopterin (new variant subtype) utilized in the first step of the metabolic pa
    en.wikipedia.org
    Phenylketonuria is inherited in an autosomal recessive fashion
    en.wikipedia.org
    220px Phenylketonuria testing
    en.wikipedia.org
    Phenylketonuria test
    winthrop.org
    Phenylketonuria test
    winthrop.org
    Robert Guthrie, MD, PhD (1916-1995), developed a new screening test for phenylketonuria in the late 1950s.
    Phenylketonuria test
    Phenylketonuria test
    1tdw: Crystal structure of double truncated human phenylalanine hydroxylase BH4-responsive PKU mutant A313T.
    Phenylketonuria testing.jpg
    Robert Guthrie, MD, PhD (1916-1995), developed a new screening test for phenylketonuria in the late 1950s.
    jama.jamanetwork.com
    Phenylketonuria test
    nlm.nih.gov
    Phenylketonuria test
    nlm.nih.gov
    1tdw: Crystal structure of double truncated human phenylalanine hydroxylase BH4-responsive PKU mutant A313T.
    en.wikipedia.org
    Phenylketonuria testing.jpg
    en.wikipedia.org
    In phenylalanine hydroxylase over 300 different mutations throughout the structure cause phenylketonuria.
    Phenylketonuria
    Phenylketonuria Test 342x 198 C0123988
    Phenylketonuria
    A baby born to a woman with PKU that is not well-controlled is at high risk for serious complications.
    In phenylalanine hydroxylase over 300 different mutations throughout the structure cause phenylketonuria.
    en.wikipedia.org
    Phenylketonuria
    healthline.com
    Phenylketonuria Test 342x 198 C0123988
    nhs.uk
    Phenylketonuria
    drgreene.com
    A baby born to a woman with PKU that is not well-controlled is at high risk for serious complications.
    uclahealth.org
    PKU Test Results -- What's normal?
    featured phenylketonuria
    Phenylketonuria test
    Percentage of children with PKU, aged 5-9 years, with a median Phe result within or above the recommended limit
    Percentage of children with PKU, aged 15  years, with a median Phe result within or above the recommended limit
    PKU Test Results -- What's normal?
    drgreene.com
    featured phenylketonuria
    medicinenet.com
    Phenylketonuria test
    healthcentral.com
    Percentage of children with PKU, aged 5-9 years, with a median Phe result within or above the recommended limit
    gosh.nhs.uk
    Percentage of children with PKU, aged 15 years, with a median Phe result within or above the recommended limit
    gosh.nhs.uk
    Phenylketonuria test
    Percentage of children with PKU, aged 10-14 years, with a median Phe result within or above the recommended limit
    Percentage of children with PKU, aged 0-4 years, with a median Phe result within or above the recommended limit
    Children with phenylketonuria (PKU) must have all their foods weighed and measured to minimize their intake of phenylalanine (phe), lest it accumulate and cause brain damage.
    PKU Test Results -- What's normal?
    Phenylketonuria test
    healthcentral.com
    Percentage of children with PKU, aged 10-14 years, with a median Phe result within or above the recommended limit
    gosh.nhs.uk
    Percentage of children with PKU, aged 0-4 years, with a median Phe result within or above the recommended limit
    gosh.nhs.uk
    Children with phenylketonuria (PKU) must have all their foods weighed and measured to minimize their intake of phenylalanine (phe), lest it accumulate and cause brain damage.
    childrenshospital.org
    PKU Test Results -- What's normal?
    drgreene.com
    PKU Test Results -- What's normal?
    BH4 = sapropterin dihydrochloride; LNAAs = large neutral amino acids; Phe = phenylalanine; PKU = phenylketonuria
    Phenylketonuria Diagram
    Genetic counseling is available to families who have children with PKU.
    Women with PKU need to follow a strict diet while pregnant to avoid serious birth defects.
    PKU Test Results -- What's normal?
    drgreene.com
    BH4 = sapropterin dihydrochloride; LNAAs = large neutral amino acids; Phe = phenylalanine; PKU = phenylketonuria
    effectivehealthcare.ahrq.gov
    Phenylketonuria Diagram
    newbornscreening.info
    Genetic counseling is available to families who have children with PKU.
    newbornscreening.info
    Women with PKU need to follow a strict diet while pregnant to avoid serious birth defects.
    mountsinaifpa.org
    Phenylketonuria Test
    PKU Clinic Locator
    Phenylketonuria Test
    endocrinology pos rec 2 kw phenylketonuria pku cat endocrinology cat endocrine cat endocrinedisorders cat geneticdisease sz 300x 250 ord 123456789
    Phenylketonuria > next > 1 > 2 > 3 >
    Phenylketonuria Test
    nytimes.com
    PKU Clinic Locator
    patientpower.info
    Phenylketonuria Test
    nytimes.com
    endocrinology pos rec 2 kw phenylketonuria pku cat endocrinology cat endocrine cat endocrinedisorders cat geneticdisease sz 300x 250 ord 123456789
    fpnotebook.com
    Phenylketonuria > next > 1 > 2 > 3 >
    dreddyclinic.com
    Phenylketonuria - PKU
    Working Globally: Raising Awareness about Newborn Screening and PKU in Brazil
    Powerful PKU Mom Shares Difficult Diagnosis Story
    Research Effort to Block Amino Acid Impact on PKU Brain Function
    Riverland families with children with PKU
    Phenylketonuria - PKU
    ibis-birthdefects.org
    Working Globally: Raising Awareness about Newborn Screening and PKU in Brazil
    patientpower.info
    Powerful PKU Mom Shares Difficult Diagnosis Story
    patientpower.info
    Research Effort to Block Amino Acid Impact on PKU Brain Function
    patientpower.info
    Riverland families with children with PKU
    abc.net.au

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