ArticleFrontiers in pediatrics2026
Assessment of biotinidase activity changes over time in biotinidase deficient patients.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Biotinidase enzyme is responsible for recycling biotin which is essential for metabolic functions. Loss of function mutations in the Methods: 194 patients with BTD were enrolled. Clinical, laboratory and genetic data of the patients were retrospectively evaluated. Patients with enzyme activity below 10% of normal were diagnosed with profound BTD while patients with enzyme activity between 10% and 30% were diagnosed with partial BTD. Results: 104 (53.6%) patients were male, most patients were diagnosed at screening ( Discussion: This study showed that biotinidase activity increased in BTD patients over time and repeated measurements of biotinidase would be a better approach to evaluate BTD. In addition, consanguineous marriage may be a risk factor for a worse prognosis in BTD.
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