🧠 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

A fit and well man in his 50s has a profound physical deterioration over half a year. The surprising answer is a treatable metabolic diagnosis. Check it out 👇

onlinelibrary.wiley.com/doi/full/10.1002/jmd2.12...

#thinkmetabolic #metabolicmystery