Case report demonstrates recovery of chronic motor neuropathy after givosiran therapy in a child, suggesting therapeutic utility for severe acute intermittent porphyria.
We describe the first case of a pediatric patient with acute intermittent porphyria and severe chronic porphyric neuropathy treated with givosiran, a small-interfering RNA that drastically decreases delta-aminolevulinic acid production and reduces porphyric attacks' recurrence.
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Mazzoli et al. (2024) studied this question.
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