Biotinidase deficiency: clinical and diagnosis aspects and neonatal screening

@inproceedings{Lara2014BiotinidaseDC,
  title={Biotinidase deficiency: clinical and diagnosis aspects and neonatal screening},
  author={Marilis T. Lara and Marcos J B Aguiar and Juliana Gurgel Giannetti and Jos{\'e} N{\'e}lio Janu{\'a}rio},
  year={2014}
}
Biotinidase deficiency is a hereditary metabolic disease with varied phenotypic expression in which there is a defect in the metabolism of biotin. The symptoms of the classic form are often neurological and in the skin, with possible sequelae such as auditory and visual disorders, and motor development and language delay. These manifestations are usually irreversible, even after treatment, which is simple, of low cost, and based on the oral replacement of biotin, 5 to 20 mg/day, for a lifetime… 
Hearing disorders and biotinidase deficiency: an integrative literature review
TLDR
The presence of Biotin was often associated with auditory pathways origins and the literature suggested a relationship between BiotInidase deficiency and hearing disorders.
Alterações auditivas e deficiência de biotinidase: revisão integrativa da literatura
TLDR
The presence of Biotin was often associated with auditory pathways origins and the literature suggested a relationship between BiotInidase deficiency and hearing disorders.

References

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TLDR
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TLDR
There are still many important and interesting questions about this disorder that must be addressed and answered and when compared with other inherited metabolic diseases, biotinidase deficiency is still one of the most readily treatable.
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TLDR
This compilation of variants causing biotinidase deficiency will be useful to clinical laboratories that are performing mutation analysis for confirmational testing when the enzymatic results are equivocal for children identified through newborn screening.
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TLDR
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TLDR
Biotinidase deficiency should be included in the differential diagnosis of Leigh syndrome and of unexplained respiratory problems, because in biotinid enzyme deficiency the CNS may become biotin depleted earlier and more severely than other organs.
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