Adult Phenylketonuria: Neurological Manifestations and Evolutionary Modalities

    March 2012 in “ Revue neurologique ”
    L. Daelman, Claire Ewenzcyk, François Feillet, Zaïre Amoura, Ayman Tourbah, Frédéric Sedel
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    TLDR Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
    The document described a 9-month-old female with phenylketonuria who exhibited severe symptoms due to a phenylalanine-free diet, including erythema, desquamation, alopecia, keratomalacia, corneal perforation, failure to thrive, and prolonged diarrhea. These symptoms resolved with dietary correction. A subsequent mouse study with 63 mice on a phenylalanine-deficient diet showed similar issues such as weight loss, thymic reduction, and severe gastric dilation, but no brain or eye lesions. The study highlighted the need for careful dietary management in phenylketonuria to prevent such deficiencies and their severe manifestations.
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