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  2. Phenylketonuria - Wikipedia

    en.wikipedia.org/wiki/Phenylketonuria

    Phenylketonuria is inherited in an autosomal recessive fashion. PKU is an autosomal recessive metabolic genetic disorder. As an autosomal recessive disorder, two PKU alleles are required for an individual to experience symptoms of the disease. For a child to inherit PKU, both parents must have and pass on the defective gene. [17]

  3. Hyperphenylalaninemia - Wikipedia

    en.wikipedia.org/wiki/Hyperphenylalaninemia

    Phenylketonuria (PKU)-like symptoms, including more pronounced developmental defects, skin irritation, and vomiting, may appear when phenylalanine levels are near 20 mg/dL (1200 mol/L). [1] Hyperphenylalaninemia is a recessive hereditary metabolic disorder that is caused by the body's failure to convert phenylalanine to tyrosine as a result of ...

  4. Phenylalanine - Wikipedia

    en.wikipedia.org/wiki/Phenylalanine

    Pregnant women with PKU must control their blood phenylalanine levels even if the fetus is heterozygous for the defective gene because the fetus could be adversely affected due to hepatic immaturity. [medical citation needed] A non-food source of phenylalanine is the artificial sweetener aspartame. This compound is metabolized by the body into ...

  5. Eton Pharmaceuticals Announces Final Readout of PKU GOLIKE ...

    lite.aol.com/tech/story/0022/20241217/9320186.htm

    About Phenylketonuria (PKU) Phenylketonuria (PKU) is caused by a defect of the enzyme needed to break down phenylalanine (Phe), leading to a toxic buildup of Phe from the consumption of foods containing protein or aspartame. Untreated PKU can result in global developmental delay or severe irreversible intellectual disability, as well as growth ...

  6. Millions Of People Take Biotin For Hair Growth, And ... - AOL

    www.aol.com/lifestyle/millions-people-biotin...

    Two other possible culprits that are usually diagnosed in newborns, according to Dr. Castilla, include biotinidase deficiency (BTD) and phenylketonuria (PKU). The former makes it difficult for the ...

  7. Pleiotropy - Wikipedia

    en.wikipedia.org/wiki/Pleiotropy

    The frequency of this disease varies greatly. Specifically, in the United States, PKU is found at a rate of nearly 1 in 10,000 births. Due to newborn screening, doctors are able to detect PKU in a baby sooner. This allows them to start treatment early, preventing the baby from suffering from the severe effects of PKU.

  8. Propionic acidemia - Wikipedia

    en.wikipedia.org/wiki/Propionic_acidemia

    The effects of propionic acidemia quickly become life-threatening. [citation needed] Long-term complications can include intellectual disability, autism, [8] chronic kidney disease, [9] cardiomyopathy, and prolonged QTc interval. [10]

  9. European Society for Phenylketonuria and Allied Disorders ...

    en.wikipedia.org/wiki/European_Society_for...

    The International PKU Day was launched in 2013 and is taking place on 28 June every year. It was inspired by the Rare Disease Day and should increase the awareness for Phenylketonuria to get featured in news. [12] This date was chosen because of the birthdays of both Robert Guthrie (born 28 June 1916) and Horst Bickel (born 28 June 1918). As ...

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