September 5, 2025WileyOpen Access

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study

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Discussion

Retrospective cohort study reveals blood phenylalanine levels vary by age in children with PAH deficiency, indicating gaps in metabolic control.

Less optimal metabolic control was observed in children with classic PKU compared to those with less severe PAH deficiency.
At a median age of 15 days, only 43% of children achieved the target therapeutic range for blood phenylalanine levels.
Frequency of blood testing and communication with metabolic centres decreased as children aged.
Understanding variability in blood phenylalanine levels is critical for improving support for children with PAH deficiency.

Yuskiv et al. (2025) studied this question.

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Retrospective cohort study reveals blood phenylalanine levels vary by age in children with PAH deficiency, indicating gaps in metabolic control.