| H01231 | |
| H番号 | H01231 |
| 名称 | ビオチン依存性大脳基底核症 |
| 概要 | Biotin-responsive basal ganglia disease (BBGD) is a rare autosomal recessive disorder. The disease has its onset in childhood, and is characterized by episodic encephalopathy presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. BBGD symptoms disappear within a few days with the administration of high doses of biotin (5-10 mg/kg/d). It has been reported that BBGD is due to mutations in the transporter gene SLC19A3. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | SLC19A3 [HSA:80704] [KO:K14610] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C63.Y MeSH: C537658 OMIM: 607483 |
| 文献 | PMID:15871139 著者 Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF タイトル Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. 雑誌 Am J Hum Genet 77:16-26 (2005) DOI:10.1086/431216 |