Publication: Biotinidase Deficiency, a Rare but Treatable Inborn Error of Metabolism
| creativeworkseries.issn | ISSN 1990-7974 eISSN 1990-7982 | |
| dc.contributor.author | Rup, Amit Ranjan | |
| dc.contributor.author | Dash, Arun Kumar | |
| dc.contributor.author | Behera, Jyoti Ranjan | |
| dc.contributor.author | Patanaik, Sibabratta | |
| dc.contributor.author | Jain, Mukesh Kumar | |
| dc.date.accessioned | 2025-12-11T09:17:46Z | |
| dc.date.available | 2025-12-11T09:17:46Z | |
| dc.date.issued | 2021 | |
| dc.description | Amit Ranjan Rup Department of Paediatrics, Klinga institute of Medical Sciences, Bhubaneswar, Odisha, India Arun Kumar Dash Department of Paediatrics, Klinga institute of Medical Sciences, Bhubaneswar, Odisha, India Jyoti Ranjan Behera Department of Paediatrics, Klinga institute of Medical Sciences, Bhubaneswar, Odisha, India https://orcid.org/0000-0002-4648-7710 Sibabratta Patanaik Department of Paediatrics, Klinga institute of Medical Sciences, Bhubaneswar, Odisha, India Mukesh Kumar Jain Department of Paediatrics, Klinga institute of Medical Sciences, Bhubaneswar, Odisha, India | |
| dc.description.abstract | Abstract: Biotinidase deficiency (BTD) is a rare inherited metabolic disorder with predominant dermatogical and neurological manifestations, which if untreated leads to severe neurological sequelae. Early diagnosis and prompt treatment with biotin prevents further progression of neurological symptoms and resolution of cutaneous features. We report an interesting case of four and half year male child presenting with seizures, developmental delay with non resolving extensive skin lesions and alopecia, diagnosed as BTD and successfully treated. | |
| dc.identifier | https://doi.org/10.3126/jnps.v41i2.32749 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/3566 | |
| dc.language.iso | en_US | |
| dc.publisher | Nepal Paediatric Society (JNPS) | |
| dc.subject | Biotinidase deficiency | |
| dc.subject | Icthyosis | |
| dc.subject | Newborn Screening | |
| dc.subject | seizures | |
| dc.title | Biotinidase Deficiency, a Rare but Treatable Inborn Error of Metabolism | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 273 | |
| oaire.citation.startPage | 270 | |
| relation.isJournalIssueOfPublication | 70f2ee75-7114-4d4d-92c6-75b60827fd33 | |
| relation.isJournalIssueOfPublication.latestForDiscovery | 70f2ee75-7114-4d4d-92c6-75b60827fd33 | |
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