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Biotinidase Deficiency: The First Reported Case from Nepal

2025-04-03

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<title>Abstract</title> <p>Background Biotinidase deficiency (BTD) is a rare genetic condition inherited in an autosomal recessive pattern that affects multiple systems. Biotinidase (EC 3.5.1.12) cleaves the vitamin, biotin, from the biocytin and the dietary protein-bound sources, and recycles the biotin. It manifests with a range of neurocutaneous symptoms, including seizures, hypotonia, ataxia, skin rashes, al...

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Literature Corpus work: 0e580445-c6b6-5088-9cce-74df1b449abe
DOI: 10.21203/rs.3.rs-5762621/v1

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