@jimd-editors.bsky.socialNewborn screening improves early detection in FAODs but morbidity remains, especially in long-chain disorders.
In this single-centre cohort of 65 patients:
• MCADD was most common
• 40% had metabolic decompensation
• 16.9% had neuropsychological manifestations
#JIMDReports
@jimd-editors.bsky.socialHow can we bring rare metabolic disease expertise beyond specialist centres?
A Dutch pilot used online teaching and real case discussions to connect clinicians, recording 208 attendances across 15 sessions.
Promising early results in #JIMDReports.
@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.
