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Phenylketonuria as related to Genetic Brain Disorders


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Classical Phenylketonuria; Deficiency Disease, Phenylalanine Hydroxylase; Folling Disease; Phenylalanine Hydroxylase Def... 

BCKD deficiency; Brain Disorders, Inborn Genetic; Branched-chain alpha-keto acid dehydrogenase deficiency; Branched-Chai... 

Phenylketonuria (PKU) is a human genetic disorder that occurs in about 1 in 15,000 births, but the incidence varies widely in different human populations from 1 in 4,500 births among the Irish to fewer than one in 100,000 births among the population of Finland.

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain amino acids (the building blocks of proteins) properly. From early infancy, the condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and mental retardation. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. Maple syrup urine disease can be life-threatening if left untreated. Maple syrup ur...


Phenylketonuria as related to Genetic Brain Disorders


  • MedlinePlus: Genetic Brain Disorders
    ... Disorders. Phenylketonuria. Tay-Sachs Disease. Wilson Disease. Brain and ... of genetic brain disorders include leukodystrophies, phenylketonuria, Tay-Sachs ...

  • NIH - Genetic Brain Disorders
    Official website of the National Institutes of Health (NIH) ... Genetic Disorders. Genetic Testing/Counseling. Phenylketonuria. Metabolic Disorders ...

  • Phenylketonuria - Wikipedia, the free encyclopedia
    Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized ... block phenylalanine transport into brain tissue in patients with phenylketonuria" ...

  • Phenylketonuria Complications : Learning Center on Healthline.com
    Source:Gale Encyclopedia of Genetic Disorders Part I. Phenylketonuria ... Epilepsy is a disorder of the brain characterized by recurrent seizures that may ...

  • Viewpoint On The Brain Disorder In Autism
    ... children with genetic disorders, infections that damage the brain, and prenatal ... generated in infectious processes and genetic conditions like phenylketonuria. ...

  • MedlinePlus: Genetics/Birth Defects Topics
    Niemann-Pick Disease see Genetic Brain Disorders. Open Spine see Spina Bifida ... Paternity Testing see Genetic Testing. Phenylketonuria. PKU see Phenylketonuria ...

  • Genetic Brain Disorder
    Some examples of genetic brain disorders include. leukodystrophies. phenylketonuria ... Phenylketonuria (PKU) is a genetic disorder in which the body can't ...

  • Phenylketonuria : RSS Feeds : Gourt
    Phenylketonuria (PKU) is a genetic disorder that ... More on [ Phenylketonuria ] Genetic Disorders. Brain Diseases. Nutrition and Metabolism Disorders ...

  • Brain Disorder
    Genetic Brain Disorders ... Genetic brain disorders specifically affect the ... of genetic brain disorders include leukodystrophies, phenylketonuria, Tay-Sachs ...

  • Genetic Brain Disorders - Genetics Home Reference
    phenylketonuria. Pompe disease. prion disease. pyruvate carboxylase deficiency. Sandhoff disease ... Reference for "Genetic Brain Disorders" for additional ...

  • Phenylketonuria (PKU)-Topic Overview
    Phenylketonuria (PKU) is a genetic disorder in which a baby lacks or has very low levels of the enzyme phenylalanine hydroxylase (PAH)

  • genome.gov | Learning About Phenylketonuria
    Having too much phenylalanine can cause brain damage unless diet treatment is started. ... The Cochrane Cystic Fibrosis & Genetic Disorders Review Group comprises an ...

  • Genetic Disorders - Phenylketonuria
    Phenylketonuria (PKU) is an example of a disorder caused by a gene-environment ... This toxicity may impair brain and nerve development and result in mental ...

  • List of genetic disorders - Wikipedia, the free encyclopedia
    see phenylketonuria. fra(X) syndrome. see fragile X syndrome. Xq27.3 ... Genetic brain disorders. genetic emphysema. see alpha-1 antitrypsin deficiency ...

  • Open Directory - Health: Conditions and Diseases: Rare Disorders ...
    Health: Conditions and Diseases: Neurological Disorders: Brain Diseases (119) ... Genes and Diseases: Phenylketonuria - Brief genetic information. ...

  • Phenylketonuria signs, symptoms, causes, and prognosis on MedicineNet.com
    Normal levels of phenylalanine are important for brain function. ... Genetic Disorder Drug Helps Reverse Heart Muscle Enlargement. Kuvan Sanctioned for PKU ...

  • NIH - Genetics/Birth Defects
    Genetic Disorders. Genetic Testing/Counseling. Head and Brain Malformations. Hemochromatosis ... PKU see Phenylketonuria. Prader-Willi Syndrome. Rare Diseases ...

  • Phenylketonuria
    Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a ... It is the most common genetic disease involving "amino acid metabolism. ...

  • life and death | genetic disorders
    Genetic disorders. Phenylketonuria (PKU) Galactosemia (GAL) Congenital hypothyroidism (CH) ... age, by which time some brain damage will likely have occurred. ...

  • Phenylketonuria
    WHAT ARE GENETIC DISORDERS? PHENYLKETONURIA. PHENYLKETONURIA. What is phenylketonuria (PKU) ... up in the blood and poisons nerve cells (neurons) in the brain. ...

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November 8, 2009


Page Updated: January 17, 2009
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