@jimd-editors.bsky.socialCitrin deficiency: beyond the ‘silent’ phase.
The latest JIMD Podcast explores diagnosis across the lifespan, distinctive treatment needs and the symptoms patients may have learnt to live with.
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@jimd-editors.bsky.socialWhat if it isn’t one diagnosis or the other — but both?
This exceptional case reports coexisting argininosuccinic aciduria + citrin deficiency.
Two defects. One altered biochemical picture.
@jimd-editors.bsky.social🎧 New Shortcast
Raised citrulline on newborn screening but what if it points to two disorders needing very different management?
Dr Anne Kwok presents a diagnostic dilemma.
soundcloud.com/user-1090061...
🎧 Listen wherever you get the JIMD Podcast.