What 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.

📄 doi.org/10.1002/jmd2...

#JIMDReports #CitrinDeficiency #UCD

🎧 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.

#CitrinDeficiency #NewbornScreening #JIMDPodcast