KEGG   DISEASE: 様々な脳筋症状を伴う反復性代謝クライシス
エントリ  
H02701                                                             
名称    
様々な脳筋症状を伴う反復性代謝クライシス
  下位グループ
様々な脳筋症状と神経学的退行を伴う反復性代謝クライシス (MECREN)
横紋筋融解・不整脈および神経変性を伴う反復性代謝クライシス (MECRCN)
概要    
Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is a novel form of mitochondrial myopathy. It has been reported that mutations in SLC25A42 cause this disease. SLC25A42 gene encodes an inner mitochondrial membrane protein that imports Coenzyme A into the mitochondrial matrix. Recently, it has been reported that mutations in TANGO2 cause recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN).
カテゴリ  
先天性代謝異常症, ミトコンドリア病
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  神経筋接合部または筋の疾患
   原発性筋疾患
    8C73  ミトコンドリアミオパチー
     H02701  様々な脳筋症状を伴う反復性代謝クライシス
病因遺伝子 
(MECREN) SLC25A42 [HSA:284439] [KO:K15085]
(MECRCN) TANGO2 [HSA:128989] [KO:K28098]
リンク   
ICD-11: 8C73.Y
OMIM: 618416 616878
文献    
  著者
Almannai M, Alasmari A, Alqasmi A, Faqeih E, Al Mutairi F, Alotaibi M, Samman MM, Eyaid W, Aljadhai YI, Shamseldin HE, Craigen W, Alkuraya FS
  タイトル
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy.
  雑誌
Clin Genet 93:1097-1102 (2018)
DOI:10.1111/cge.13210
文献    
PMID:26541337 (MECREN)
  著者
Shamseldin HE, Smith LL, Kentab A, Alkhalidi H, Summers B, Alsedairy H, Xiong Y, Gupta VA, Alkuraya FS
  タイトル
Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.
  雑誌
Hum Genet 135:21-30 (2016)
DOI:10.1007/s00439-015-1608-8
文献    
PMID:26805782 (MECRCN)
  著者
Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Kupper C, Muhlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack TB
  タイトル
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
  雑誌
Am J Hum Genet 98:358-62 (2016)
DOI:10.1016/j.ajhg.2015.12.009
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