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

Molecular biology reports - 9 Aug 2024

Kannan Balachander, Jayaseelan Vijayashree Priyadharsini, Arumugam Paramasivam, Navamani Hephzibah Kirubamani, Dv Lal

Abstract excerpt

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 infant 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. Biotinidase activity...

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PMID: 39120718
DOI: 10.1007/s11033-024-09827-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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