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Infantile leigh-like syndrome: A rare presentation of biotin-thiamine responsive basal ganglia disease

2024-03-21

Abstract excerpt

<title>Abstract</title><p>Background Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is an extremely rare, inherited autosomal recessive neurometabolic disorder associated with episodes of sub-acute encephalopathy and seizures. It occurs due to impaired transport of thiamine across the blood-brain barrier and is considered as a treatable condition, if biotin and thiamine supplementation is initiated earl...

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Literature Corpus work
13b96d9c-e8d1-5475-a1f0-3fdcb20124c1
DOI
10.21203/rs.3.rs-4124885/v1
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