Metabolic Mysteries: Recurrent abdominal pain, “FMF” and attacks around menstruation
About this episode
Dr Tanyel Zubarioglu discusses a case of a young woman with severe abdominal pain and hidden metabolic diagnoses.
Dr Tanyel Zubarioglu discusses the case of a young woman with years of severe abdominal pain, neurological symptoms, anxiety, and repeated hospital visits, initially thought to represent familial Mediterranean fever. In this episode, we explore how a simple urine test during an acute attack changed everything, and why some metabolic diagnoses remain hidden in plain sight. Read the paper here: https://link.springer.com/article/10.1186/s13023-026-04308-3
More episodes of JIMD Podcasts
- Metabolic Mysteries: A 57-year-old man with vomiting and worsening confusion
- Tyrosine Hydroxylase Deficiency: Consensus guidelines
- Shortcast: Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency
- D-Glyceric aciduria: is GLYCTK really mitochondrial?
- Shortcast: Drivers of Diagnostic Delay in Mito Disease: Missed Recognition of Canonical Features
- mRNA therapies in liver Inherited Metabolic Diseases
Explore listener stats, chart rankings, contacts and more on the JIMD Podcasts podcast page.