ALPERS-HUTTENLOCHER SYNDROME
Alpers-Huttenlocher syndrome is a rare mitochondrial disease connected with mutations in the mitochondrial DNA replicase, polymerase gamma (POLG). The reduction of the activity within mitochondrial enzymes is connected with the reduction of replications level within the mitochondrial DNA. The diseas...
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| Format: | Article |
| Language: | Russian |
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IRBIS LLC
2016-05-01
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| Series: | Эпилепсия и пароксизмальные состояния |
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| Online Access: | https://www.epilepsia.su/jour/article/view/169 |
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| author | T. T. Batysheva V. M. Trepilets L. Ya. Akhadova G. S. Golosnaya |
| author_facet | T. T. Batysheva V. M. Trepilets L. Ya. Akhadova G. S. Golosnaya |
| author_sort | T. T. Batysheva |
| collection | DOAJ |
| description | Alpers-Huttenlocher syndrome is a rare mitochondrial disease connected with mutations in the mitochondrial DNA replicase, polymerase gamma (POLG). The reduction of the activity within mitochondrial enzymes is connected with the reduction of replications level within the mitochondrial DNA. The disease manifests itself once the replications level reaches a critical point. We can also observe the debut variability and disease progression even among patients with identical genotypes and normal children onset up to the moment of clinical presentations debut. Seizures, liver degeneration and progressive development regression are the classical clinical triad of the disease. Seizures are usually resistant to treatment and have a status flow.Liver disfunction is one of the manifestations of the disease inevitable in the terminal stages. The disease in steadily progressive and leads to the patient s death within several years. Valproic acid causes toxic fatal hepatitis developing within several months and leading to the loss of the patent. Timely diagnosis of the disease, prescription of maintenance therapy and elimination of medications containing valproic acid from the seizures therapy can certainly increase patient s lifetime.place>. |
| format | Article |
| id | doaj-art-04ba02a98e9f4129bb312bca53dd50d1 |
| institution | DOAJ |
| issn | 2077-8333 2311-4088 |
| language | Russian |
| publishDate | 2016-05-01 |
| publisher | IRBIS LLC |
| record_format | Article |
| series | Эпилепсия и пароксизмальные состояния |
| spelling | doaj-art-04ba02a98e9f4129bb312bca53dd50d12025-08-20T03:19:33ZrusIRBIS LLCЭпилепсия и пароксизмальные состояния2077-83332311-40882016-05-01714655168ALPERS-HUTTENLOCHER SYNDROMET. T. Batysheva0V. M. Trepilets1L. Ya. Akhadova2G. S. Golosnaya3Scientific and Practical Center of Pediatric psychoneurology, MoscowScientific and Practical Center of Pediatric psychoneurology, MoscowScientific and Practical Center of Pediatric psychoneurology, MoscowScientific and Practical Center of Pediatric psychoneurology, MoscowAlpers-Huttenlocher syndrome is a rare mitochondrial disease connected with mutations in the mitochondrial DNA replicase, polymerase gamma (POLG). The reduction of the activity within mitochondrial enzymes is connected with the reduction of replications level within the mitochondrial DNA. The disease manifests itself once the replications level reaches a critical point. We can also observe the debut variability and disease progression even among patients with identical genotypes and normal children onset up to the moment of clinical presentations debut. Seizures, liver degeneration and progressive development regression are the classical clinical triad of the disease. Seizures are usually resistant to treatment and have a status flow.Liver disfunction is one of the manifestations of the disease inevitable in the terminal stages. The disease in steadily progressive and leads to the patient s death within several years. Valproic acid causes toxic fatal hepatitis developing within several months and leading to the loss of the patent. Timely diagnosis of the disease, prescription of maintenance therapy and elimination of medications containing valproic acid from the seizures therapy can certainly increase patient s lifetime.place>.https://www.epilepsia.su/jour/article/view/169mitochondrial diseasealpers-huttenlocher syndromeseizurevalproates |
| spellingShingle | T. T. Batysheva V. M. Trepilets L. Ya. Akhadova G. S. Golosnaya ALPERS-HUTTENLOCHER SYNDROME Эпилепсия и пароксизмальные состояния mitochondrial disease alpers-huttenlocher syndrome seizure valproates |
| title | ALPERS-HUTTENLOCHER SYNDROME |
| title_full | ALPERS-HUTTENLOCHER SYNDROME |
| title_fullStr | ALPERS-HUTTENLOCHER SYNDROME |
| title_full_unstemmed | ALPERS-HUTTENLOCHER SYNDROME |
| title_short | ALPERS-HUTTENLOCHER SYNDROME |
| title_sort | alpers huttenlocher syndrome |
| topic | mitochondrial disease alpers-huttenlocher syndrome seizure valproates |
| url | https://www.epilepsia.su/jour/article/view/169 |
| work_keys_str_mv | AT ttbatysheva alpershuttenlochersyndrome AT vmtrepilets alpershuttenlochersyndrome AT lyaakhadova alpershuttenlochersyndrome AT gsgolosnaya alpershuttenlochersyndrome |