Splenic artery aneurysm is a rare but dangerous complication of Gaucher disease.
🧬 Prevalence ~2.1% (2x higher than general population)
⚠️ Often linked to lack of ERT/SRT
💡 Routine splenic artery imaging may save lives
New study 👉 doi.org/10.1002/jmd2...
#Gaucher #RareDisease #JIMDReports

🧠 Vomiting + ataxia
🧪 Mildly raised lactate
🧬 Normal organic acids
💊 Thiamine helps—but why?

When the usual tests don’t fit, dig deeper.
Can you crack this metabolic mystery?

🔗 onlinelibrary.wiley.com/doi/10.1002/...
#IMD #RareDisease #MetabolicMystery #JIMDReports #DiagnosticChallenge

Two pregnancies in GSD Ia, both with preeclampsia & SGA infants.

Abnormal placentas, but no GSD-specific histology.
Big questions remain.

📖 onlinelibrary.wiley.com/doi/10.1002/...
#IMD #Placenta #GSDIa #RareDisease #JIMDReports

New in #JIMDReports

Self-Reported Liver Disease and the Burden of Erythropoietic Protoporphyria
Hetanshi Naik, Kristen Wheeden, Hilary Colwell, Susan Mathias, Chelsea (Mencio) Norregaard, PhD, MPH, Melanie Chin, William Savage, Manisha Balwani, MD, MS, FACMG
doi.org/10.1002/jmd2... #porphyria

In this new publication in #JIMDReports Marli Dercksen et al describe the… Diagnosis of Primary Trimethylaminuria in an Affected Patient With a Rare Genotype in Sub-Saharan Africa

doi.org/10.1002/jmd2...

New in #JIMDReports, a report from Saudi Arabia looking at the impact of newborn screening on outcomes in classic #homocystinuria

doi.org/10.1002/jmd2...