| H01354 | |
| H番号 | H01354 |
| 名称 | リー症候群 |
| 概要 | Leigh syndrome is a severe neurological disorder, characterized by bilaterally symmetrical necrotic lesions in the basal ganglia and brainstem. Most frequently the central nervous system is affected, with psychomotor retardation, seizures, nystagmus, optic atrophy, ataxia, or respiratory failure. Some patients also present with peripheral nervous system involvement or non-neurologic abnormalities. In the majority of cases, dysfunction of the mitochondrial respiratory chain complex or of the pyruvate dehydrogenase complex are responsible for the disease. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. |
| カテゴリ | 先天性代謝異常症, ミトコンドリア病 |
| ネットワーク | - |
| 病因遺伝子 | NDUFS3 [HSA:4722] [KO:K03936] NDUFS4 [HSA:4724] [KO:K03937] NDUFS7 [HSA:374291] [KO:K03940] NDUFS8 [HSA:4728] [KO:K03941] NDUFA2 [HSA:4695] [KO:K03946] NDUFA9 [HSA:4704] [KO:K03953] NDUFA10 [HSA:4705] [KO:K03954] NDUFA12 [HSA:55967] [KO:K11352] NDUFAF2 [HSA:91942] [KO:K18160] NDUFAF6 [HSA:137682] [KO:K18163] FOXRED1 [HSA:55572] [KO:K18166] SDHA [HSA:6389] [KO:K00234] COX10 [HSA:1352] [KO:K02257] COX15 [HSA:1355] [KO:K02259] SURF1 [HSA:6834] [KO:K14998] BCS1L [HSA:617] [KO:K08900] TACO1 [HSA:51204] [KO:K18189] (LSFC) LRPPRC [HSA:10128] [KO:K17964] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | チオクト酸 [DR:D00086] |
| コメント | - |
| リンク | ICD-11: 5C53.24 ICD-10: G31.8 MeSH: D007888 OMIM: 256000 220111 |
| 文献 | PMID:18805359 著者 Finsterer J タイトル Leigh and Leigh-like syndrome in children and adults. 雑誌 Pediatr Neurol 39:223-35 (2008) DOI:10.1016/j.pediatrneurol.2008.07.013 PMID:21150889 著者 Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP タイトル NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 雑誌 Eur J Hum Genet 19:270-4 (2011) DOI:10.1038/ejhg.2010.204 PMID:23389837 著者 Mermigkis C, Bouloukaki I, Mastorodemos V, Plaitakis A, Alogdianakis V, Siafakas N, Schiza S タイトル Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease. 雑誌 Sleep Breath 17:1129-35 (2013) DOI:10.1007/s11325-013-0816-5 PMID:19503089 著者 Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, Lochmuller H, Chevrette M, Kaufman BA, Horvath R, Shoubridge EA タイトル Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 雑誌 Nat Genet 41:833-7 (2009) DOI:10.1038/ng.390 |