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  2. Phenylketonuria - Wikipedia

    en.wikipedia.org/wiki/Phenylketonuria

    Before the causes of PKU were understood, PKU caused severe disability in most people who inherited the relevant mutations. Nobel and Pulitzer Prize winning author Pearl S. Buck had a daughter named Carol who lived with PKU before treatment was available, and wrote an account of its effects in a book called The Child Who Never Grew. [61]

  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. 6-Pyruvoyltetrahydropterin synthase deficiency - Wikipedia

    en.wikipedia.org/wiki/6-Pyruvoyltetrahydropterin...

    It shares history with PKU and hyperphenylalaninemia (HPA) . Asbjørn Følling, a physician studying metabolic diseases, identified an excess of phenylpyruvate as the cause of a strange, musty odor from the urine of two Norwegian children. [13] Further research by Penrose in 1935 lead to the coining of the term, "phenylketonuria". The ...

  5. Ivar Asbjørn Følling - Wikipedia

    en.wikipedia.org/wiki/Ivar_Asbjørn_Følling

    Today a screening blood test for PKU is done on newborns to detect the disease. With a special diet low in phenylalanine, PKU newborns can grow and develop into normal children and adults. Følling's work was too late to save Liv and Dag from severe progressive mental retardation (and in Dag's case, death) but it has saved thousands of children ...

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  7. Compound heterozygosity - Wikipedia

    en.wikipedia.org/wiki/Compound_heterozygosity

    Phenylketonuria. Because phenylketonuria was the first genetic disorder for which mass post-natal genetic screening was available, beginning in the early 1960s, atypical cases were detected almost immediately. Molecular analysis of the genome was not yet possible, but protein sequencing revealed cases caused by compound heterozygosity. [4]

  8. A psychologist breaks down 'Baby Reindeer', an unconventional ...

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    Donny could also be trauma bonding with Martha, which occurs when a victim feels "increasingly worthless and ashamed due to the abuser’s actions" and "becomes dependent on their abuser to ...

  9. Millions Of People Take Biotin For Hair Growth, And Many Are ...

    www.aol.com/millions-people-biotin-hair-growth...

    One important note: Excess biotin can also "cause incorrect results in certain laboratory tests that look at thyroid levels and blood markers that can help diagnose heart attacks," says Dr. Castillo.

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