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.
@jimd-editors.bsky.social
@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.socialWhat happens to the developing brain in asparagine synthetase deficiency?
The first neuropathological characterisation of ASNSD reveals disrupted neuronal migration, abnormal cortical lamination and cortical thinning.
🧠 New in #JIMDReports
@jimd-editors.bsky.socialOne rare diagnosis doesn’t necessarily explain everything.
A new #JIMDReports case describes MPS I diagnosed in a patient with Wolf–Hirschhorn syndrome, a striking example of diagnostic overshadowing in rare disease.
