Article

Thiamine metabolism dysfunction syndrome type IV without encephalopathy: an atypical presentation

2024-06-27

Abstract excerpt

<title>Abstract</title> <p>Background Thiamine metabolism dysfunction syndrome type-4 (THMD-4) is an exceptionally rare autosomal recessive neuro-metabolic disorder characterized by febrile illness-associated episodic encephalopathy, bilateral striatal necrosis, and progressive polyneuropathy. It is caused by bi-allelic pathogenic variations in the SLC25A19 gene encoding the mitochondrial thiamine pyrophosphate...

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Literature Corpus work: d2dc3fd3-f1f1-508b-88aa-3f9376477b90
DOI: 10.21203/rs.3.rs-4556014/v1

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