Man-Made Disease: Clinical Manifestations of Low Phenylalanine Levels in an Inadequately Treated Phenylketonuria Patient and Mouse Study

    January 2013 in “ Molecular genetics and metabolism ”
    Ben Pode‐Shakked, Lilach Shemer-Meiri, Alon Harmelin, Noa Stettner, Ori Brenner, Smadar Abraham, Gerard Schwartz, Yair Anikster
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    TLDR Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
    The document described a 9-month-old female with phenylketonuria who exhibited severe symptoms such as erythema, desquamation, alopecia, keratomalacia, corneal perforation, failure to thrive, and prolonged diarrhea due to an inadequate diet lacking phenylalanine. Upon correcting her diet, her symptoms resolved, including hair regrowth. To further investigate, a mouse study with 63 mice was conducted, showing that a phenylalanine-deficient diet led to weight loss, thymic reduction, gastric dilation, thymic depletion, hepatocellular vacuolation, and pancreatic atrophy, but no brain or eye lesions. The study highlighted the need for careful dietary management in phenylketonuria to prevent such deficiencies.
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