Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the Literature
Biotinidase deficiency is a rare treatable metabolic disorder caused by biallelic mutations in the BTD gene. In the absence of neonatal screening and treatment, affected children develop typically optic atrophy, hypotonia, early onset seizures, developmental delay, and cutaneous manifestations. Some...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/crnm/7003370 |
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