| H00206 | |
| H番号 | H00206 |
| 名称 | メバロン酸キナーゼ欠損症 |
| 概要 | Mevalonate kinase deficiency is an autosomal recessive disorder, which is identified as the cause of two inherited human autoinflammatory disorders: mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS). Mevalonate kinase is located at the beginning of the cholesterol biosynthesis pathway compromising the biosynthesis of nonsterol isoprenes in addition to cholesterol. Patients of MVA show the symptoms, including dysmorphic features, cataracts, and neurologic symptoms. The majority of patients with HIDS experience only recurrent febrile crises, without any neurologic abnormalities or dysmorphic features. Mevalonic kinase activity in HIDS patients is generally in the range of 5-15% of normal as compared to 0-4% in MVA. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06034(H00206) Cholesterol biosynthesis |
| 病因遺伝子 | MVK [HSA:4598] [KO:K00869] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | カナキヌマブ [DR:D09315] |
| コメント | - |
| リンク | ICD-11: 5C52.10 ICD-10: D89.2 MeSH: D054078 OMIM: 260920 610377 |
| 文献 | PMID:17467679 著者 Buhaescu I, Izzedine H タイトル Mevalonate pathway: a review of clinical and therapeutical implications. 雑誌 Clin Biochem 40:575-84 (2007) DOI:10.1016/j.clinbiochem.2007.03.016 PMID:16722536 著者 Haas D, Hoffmann GF タイトル Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. 雑誌 Orphanet J Rare Dis 1:13 (2006) DOI:10.1186/1750-1172-1-13 PMID:16835861 著者 Mandey SH, Schneiders MS, Koster J, Waterham HR タイトル Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. 雑誌 Hum Mutat 27:796-802 (2006) DOI:10.1002/humu.20361 PMID:12563048 著者 Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR, Wanders RJ, Gibson KM, Hoffmann GF タイトル Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. 雑誌 Pediatrics 111:258-61 (2003) DOI:10.1542/peds.111.2.258 |