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Article

Clinical, biochemical and genotypical characteristics in biotinidase deficiency.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Nov 2021

Akgun Abdurrahman, Sen Askin, Onal Hasan

Abstract excerpt

OBJECTIVES: Hypotonia, lethargy, eczema, alopecia, conjunctivitis, ataxia, hearing loss, optic atrophy, cognitive retardation, and seizures can occur in patients with biotinidase deficiency, and it is inherited as autosomal recessive. The aim of this study was to evaluate the cases followed up with the diagnosis of biotinidase deficiency in our unit, in terms of clinical, biochemical and genetic analyses....

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Identifiers

PMID: 34448386
DOI: 10.1515/jpem-2021-0242

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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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