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Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information—A pilot project

✍ Scribed by Prasad, Chitra; DiRaimo, Jennifer; Napier, Melanie; Goobie, Sharan; Potter, Murray; Chakraborty, Pranesh; Karaceper, Maria; Schulze, Andreas; Rupar, Charles A.

Book ID
126943226
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
44 KB
Volume
47
Category
Article
ISSN
0009-9120

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Biotinidase deficiency is characterized by neurological and cutaneous abnormalities that can be prevented or ameliorated by oral biotin therapy. A child with biotinidase deficiency went undiagnosed for a long period and has irreversible neurological deficits despite biotin treatment. This child is h