JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.
Progressive ataxia, dysarthria and vertical supranuclear gaze palsy can remain diagnostically unresolved despite negative exome sequencing; evolving biomarkers and RNA sequencing from cultured fibroblasts may reveal deep intronic splicing abnormalities missed by conventional DNA testing.
Progressive ataxia, tremor, seizures and spinal MRI evidence of subacute combined degeneration can signal late-onset cobalamin C disease despite normal serum vitamin B12, prompting methylmalonic acid, homocysteine and targeted metabolic investigation.
Immune abnormalities can persist despite good metabolic control in propionic and methylmalonic acidaemia, so recurrent severe infections, unusual organisms or persistent cytopenias may justify targeted immune assessment while small pooled studies limit disease-specific conclusions.
Pregnancy with LPI can combine metabolic, immune, haematological and skeletal complications, including severe thrombocytopenia and corticosteroid-associated hyperammonaemia, requiring coordinated multidisciplinary care, close ammonia monitoring around high-dose corticosteroids and continued postpartum attention to metabolic bone disease.
An infant with PNPT1-related mitochondrial interferonopathy showed biomarker normalisation and clinical improvement after off-label tofacitinib. The episode explains the interferon mechanism, the role of pathway testing, and why a single responsive case does not establish durable efficacy or safety.
Metabolomics, reverse phenotyping and pathway-proximal functional testing can help resolve uncertain inherited metabolic diagnoses. Other reports examine inflammation in fatty acid oxidation disorders, personalised weight-loss treatment in urea cycle disease and multifactorial hyperammonaemia after bariatric surgery.
Rare inherited metabolic disorders may require phenotype, biochemistry, genomics and specialist review rather than one broad screen. Metabolomics can miss intracellular storage disease, while natural history studies, validated biomarkers and international referral networks strengthen diagnosis and care.
Conference reports span newborn-screening hyperammonaemia, emerging inherited metabolic disease therapies, mortality patterns and medication-related sterol abnormalities. The practical emphasis is urgent specialist coordination, variant-informed surveillance and reassessing phenotype, biochemistry and medicines before assigning a rare diagnosis.
Inherited metabolic care in Azerbaijan combines newborn screening with expanding diagnostics and multidisciplinary support, but specialist access remains uneven. Rare cases illustrate clues to Allan-Herndon-Dudley syndrome and TEFM-related mitochondrial disease when neurodevelopmental and movement phenotypes do not fit.
Recurrent headache may signal late-onset urea cycle disease and can justify plasma ammonia testing in selected patients. Wider themes include rare-disease registries, multidisciplinary training, palliative care, personalised gene editing and clinically validated AI-supported case finding.
.svg)