Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation
We report a case of partial biotinidase deficiency (plasma biotinidase levels: 1.30 nm/minute/mL) in a 7-month-old boy who presented with evidence of perinatal distress followed by developmental delay, hypotonia, seizures, and infantile spasms without alopecia or dermatitis. His neurologic symptoms...
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2006
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| Online Access: | http://hdl.handle.net/10725/11108 https://doi.org/10.1177/08830738060210110301 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php https://journals.sagepub.com/doi/abs/10.1177/08830738060210110301 |
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| _version_ | 1864513488270917632 |
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| author | Mikati, Mohamad A. |
| author2 | Zalloua, Pierre Karam, Pascale |
| author2_role | author author |
| author_facet | Mikati, Mohamad A. Zalloua, Pierre Karam, Pascale |
| author_role | author |
| dc.creator.none.fl_str_mv | Mikati, Mohamad A. Zalloua, Pierre Karam, Pascale |
| dc.date.none.fl_str_mv | 2006 2019-07-22T06:03:37Z 2019-07-22T06:03:37Z 2019-07-22 |
| dc.identifier.none.fl_str_mv | 1708-8283 http://hdl.handle.net/10725/11108 https://doi.org/10.1177/08830738060210110301 Mikati, M. A., Zalloua, P., Karam, P., Habbal, M. Z., & Rahi, A. C. (2006). Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. Journal of child neurology, 21(11), 978-981. http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php https://journals.sagepub.com/doi/abs/10.1177/08830738060210110301 |
| dc.language.none.fl_str_mv | en |
| dc.relation.none.fl_str_mv | Journal of Child Neurology |
| dc.rights.*.fl_str_mv | info:eu-repo/semantics/openAccess |
| dc.title.none.fl_str_mv | Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation |
| dc.type.none.fl_str_mv | Article info:eu-repo/semantics/publishedVersion info:eu-repo/semantics/article |
| description | We report a case of partial biotinidase deficiency (plasma biotinidase levels: 1.30 nm/minute/mL) in a 7-month-old boy who presented with evidence of perinatal distress followed by developmental delay, hypotonia, seizures, and infantile spasms without alopecia or dermatitis. His neurologic symptoms improved markedly on biotin supplementation and antiepileptic drug therapy. DNA mutational analysis revealed that the patient was homozygous for a novel E64K mutation and his parents were heterozygous for the same mutation. Whereas preexisting perinatal distress probably contributed to the severity of the patient's symptoms, the described mutation is novel and is possibly responsible for at least some of his clinical manifestations |
| eu_rights_str_mv | openAccess |
| format | article |
| id | LAURepo_149594f417e81583a8958f59db8fc930 |
| identifier_str_mv | 1708-8283 Mikati, M. A., Zalloua, P., Karam, P., Habbal, M. Z., & Rahi, A. C. (2006). Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. Journal of child neurology, 21(11), 978-981. |
| language_invalid_str_mv | en |
| network_acronym_str | LAURepo |
| network_name_str | Lebanese American University repository |
| oai_identifier_str | oai:laur.lau.edu.lb:10725/11108 |
| publishDate | 2006 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| spelling | Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardationMikati, Mohamad A.Zalloua, PierreKaram, PascaleWe report a case of partial biotinidase deficiency (plasma biotinidase levels: 1.30 nm/minute/mL) in a 7-month-old boy who presented with evidence of perinatal distress followed by developmental delay, hypotonia, seizures, and infantile spasms without alopecia or dermatitis. His neurologic symptoms improved markedly on biotin supplementation and antiepileptic drug therapy. DNA mutational analysis revealed that the patient was homozygous for a novel E64K mutation and his parents were heterozygous for the same mutation. Whereas preexisting perinatal distress probably contributed to the severity of the patient's symptoms, the described mutation is novel and is possibly responsible for at least some of his clinical manifestationsPublishedN/A2019-07-22T06:03:37Z2019-07-22T06:03:37Z20062019-07-22Articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article1708-8283http://hdl.handle.net/10725/11108https://doi.org/10.1177/08830738060210110301Mikati, M. A., Zalloua, P., Karam, P., Habbal, M. Z., & Rahi, A. C. (2006). Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. Journal of child neurology, 21(11), 978-981.http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.phphttps://journals.sagepub.com/doi/abs/10.1177/08830738060210110301enJournal of Child Neurologyinfo:eu-repo/semantics/openAccessoai:laur.lau.edu.lb:10725/111082021-03-19T10:47:35Z |
| spellingShingle | Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation Mikati, Mohamad A. |
| status_str | publishedVersion |
| title | Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation |
| title_full | Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation |
| title_fullStr | Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation |
| title_full_unstemmed | Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation |
| title_short | Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation |
| title_sort | Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation |
| url | http://hdl.handle.net/10725/11108 https://doi.org/10.1177/08830738060210110301 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php https://journals.sagepub.com/doi/abs/10.1177/08830738060210110301 |