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This study reported that mice on a phenylalanine-deficient diet showed symptoms such as weight loss, gastric dilation, and thymic depletion, which echo human phenylalanine deficiency manifestations.

This study reports that both a 9-month-old with phenylketonuria on a phenylalanine-free diet and mice on a deficient diet exhibited severe health issues, highlighting the need for cautious dietary management.

This study documented a case of an 11-month-old with PKU who developed acrodermatitis enteropathica-like symptoms due to severe phenylalanine deficiency, requiring dietary adjustment to restore phenylalanine levels.

This case series highlights the real-world challenges and experiences of US healthcare providers using pegvaliase for phenylketonuria treatment, emphasizing patient education on adverse events and dietary changes, and tailored titration schedules, while reporting that most patients achieved treatment efficacy despite initial adverse events.

This study reports that the Swedish newborn screening program for phenylketonuria, galactosaemia, and biotinidase deficiency is effective, with high sensitivity and specificity, and lower false positive rates compared to other countries, while genetic variants impact detection and incidence patterns in Sweden.