In this episode of the JIMD Podcast, we explore manganese transporter disorders with Dr Karin Tuschl, Dr Suvasini Sharma and Prof John Spencer, covering clinical red flags, MRI clues, EDTA chelation, and the urgent search for safer, oral treatments for hypermanganesemia with dystonia.
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2
Sherry Fang, et al
https://doi.org/10.1002/jimd.70031
Removal of Toxic Metabolites—Chelation: Manganese Disorders
Hendrik Vogt, et al
https://doi.org/10.1002/jimd.70107
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In this episode of the JIMD Podcast, we explore manganese transporter disorders with Dr Karin Tuschl, Dr Suvasini Sharma and Prof John Spencer, covering clinical red flags, MRI clues, EDTA chelation, and the urgent search for safer, oral treatments for hypermanganesemia with dystonia.
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2
Sherry Fang, et al
https://doi.org/10.1002/jimd.70031
Removal of Toxic Metabolites—Chelation: Manganese Disorders
Hendrik Vogt, et al
https://doi.org/10.1002/jimd.70107
Shortcast: Liver Directed Rx don’t change biochemistry nor Leukodystrophy in Biallelic HMBS Variants
JIMD Podcasts
4 minutes 23 seconds
1 week ago
Shortcast: Liver Directed Rx don’t change biochemistry nor Leukodystrophy in Biallelic HMBS Variants
Dr Jeremy Clark unpacks why leukodystrophy caused by biallelic HMBS variants does not respond to liver transplantation or hepatically targeted therapies, pointing instead to CNS-driven porphyrin toxicity and a need for entirely new management approaches.
Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case Report
Jeremy Clark, et al
https://doi.org/10.1002/jmd2.70056
JIMD Podcasts
In this episode of the JIMD Podcast, we explore manganese transporter disorders with Dr Karin Tuschl, Dr Suvasini Sharma and Prof John Spencer, covering clinical red flags, MRI clues, EDTA chelation, and the urgent search for safer, oral treatments for hypermanganesemia with dystonia.
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2
Sherry Fang, et al
https://doi.org/10.1002/jimd.70031
Removal of Toxic Metabolites—Chelation: Manganese Disorders
Hendrik Vogt, et al
https://doi.org/10.1002/jimd.70107
