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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
    Some examples of genetic brain disorders include leukodystrophies , phenylketonuria , Tay-Sachs disease , and Wilson disease . Many people with genetic brain disorders fail to produce ...

  • Phenylketonuria - Wikipedia, the free encyclopedia
    ... causes a spectrum of disorders including classic phenylketonuria ... transport into brain tissue in patients with phenylketonuria ". Journal ... Metabolic disorders | Genetic disorders | ...

  • Genetic Brain Disorders - Genetics Home Reference
    Genetic Brain Disorders ... like episodes; Niemann-Pick disease; ornithine transcarbamylase deficiency; phenylketonuria ...

  • Genetic Brain Disorder
    Some examples of genetic brain disorders include leukodystrophies ; phenylketonuria ; Tay-Sachs disease ; Wilson disease . Many people with genetic brain disorders fail to produce enough of ...

  • MedlinePlus: Brain and Nerves Topics
    Brain Diseases; Brain Disorders, Inborn Genetic see Genetic Brain Disorders; Brain Injuries see ... and Post-Polio Syndrome; Parkinson's Disease; Peripheral Nerve Disorders; Phenylketonuria ...

  • The Early History of Universal Screening for Metabolic Disorders ...
    MedlinePlus related topics: Genetic Brain Disorders ... Galactose epimerase deficiency: Congenital Abnormalities: Phenylketonuria: Brain Diseases ...

  • GENETIC DISORDERS - Phenylketonuria (PKU)
    A to Z of genetic disorders, diseases and conditions. ... Phenylketonuria (PKU) What is phenylketonuria? Phenylketonuria ... moderate or mild PKU) have a smaller risk of brain ...

  • Phenylketonuria - Genetics Home Reference
    ... development, behavioral problems, and psychiatric disorders ... PKU hyperphenylalaninemia, have a smaller risk of brain ... of PKU, but little is known about these additional genetic ...

  • NIH - Genetic Brain Disorders
    Genetic Brain Disorders ... Genetic Testing/Counseling; Phenylketonuria; Metabolic Disorders; Wilson's Disease; Leukodystrophies; Tay-Sachs Disease; Brain and Nervous ... The NIH ...

  • Phenylketonuria
    Home Understanding Genetic Disorders Genetic Disorders Library. What is phenylketonuria (PKU)? Phenylketonuria is a rare ... and poisons nerve cells (neurons) in the brain.

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July 26, 2008


Page Updated: June 12, 2007
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