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Atlas of Genetic Diagnosis and Counseling pp 1–6Cite as

Biotinidase Deficiency

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Abstract

In 1971, Gompertz and colleagues (1971) first described multiple carboxylase deficiency responsive to biotin administration. Wolf and colleagues (1981) further characterized the infantile form of multiple carboxylase deficiency as biotinidase deficiency (BTD) in 1981.

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References

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2016). Biotinidase Deficiency. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_24-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_24-2

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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

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