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[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease]. | LitMetric

AI Article Synopsis

  • The study evaluated the clinical, biochemical, and genetic characteristics of patients with biotinidase deficiency, focusing on cases identified through newborn and selective screening.
  • Most patients detected via newborn screening were asymptomatic, while those identified through selective screening exhibited neurological issues and various genetic mutations.
  • The researchers emphasize the importance of including biotinidase deficiency in newborn screening programs for early intervention and suggest that genetic testing could help determine the severity of the disease in patients.

Article Abstract

Background And Objective: To evaluate clinical, biochemical and genetic findings of two series of patients with biotinidase deficiency.

Patients And Method: Fifteen cases detected through newborn screening and six through selective screening for hearing loss or metabolic disease.

Results: No patient detected by neonatal screening had symptoms and only one case with partial biotinidase activity developed myoclonic seizures that resolved with biotin. More common mutations found among this group were p.D444H and the double mutation [p.D444H;p.A171T]. However, neurological and hearing manifestations predominated among the six symptomatic cases and mutations p.L32fs, p.G34fs, p.T401I, p.D444H, p.T532M and the novel one p.L466fs were identified. Patients with profound biotinidase deficiency and/or clinical signs were treated with pharmacological doses of biotin (10-30mg daily).

Conclusion: Biotinidase deficiency must be included in the newborn screening programmes in order to begin early treatment even in partial forms. Different mutations found in both series of patients suggest that routine genetic procedure of the BTD gene by direct sequencing might be useful to assign patients to the partial or profound form of the disease.

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Source
http://dx.doi.org/10.1016/j.medcli.2011.01.018DOI Listing

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