Article

Biallelic loss-of-function variations in BTD cause profound biotinidase deficiency in an Indian patient

2024-06-06

Abstract excerpt

<title>Abstract</title><p>Background Biotinidase deficiency (BD) is a rare, autosomal recessive metabolic disorder characterized by neurocutaneous symptoms. This study investigates a case of profound BD in an Indian patient and the underlying genetic basis. Methods A 10-month-old male presenting with seizures, hypotonia, ataxia, visual impairments, and developmental delay underwent biochemical and genetic analysis...

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Literature Corpus work: bbb51a00-711b-5c55-ac9e-42c0b8ed51d9
DOI: 10.21203/rs.3.rs-4447507/v1

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