KEGG   DISEASE: FLAD1 欠損による脂質蓄積ミオパチー
エントリ  
H02527                                                             
名称    
FLAD1 欠損による脂質蓄積ミオパチー
概要    
Lipid storage myopathy due to FLAD1 deficiency (LSMFLAD) was recently reported as a novel riboflavin metabolism disorder resembling multiple acyl-CoA dehydrogenase deficiency (MADD). MADD, also known as glutaric acidemia type II [DS:H00178], is a mitochondrial fatty acid oxidation disorder characterized by combined respiratory-chain deficiency and a neuromuscular phenotype.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C52  脂質代謝の先天性異常
     H02527  FLAD1 欠損による脂質蓄積ミオパチー
パスウェイ 
hsa00740  Riboflavin metabolism
hsa01240  Biosynthesis of cofactors
病因遺伝子 
FLAD1 [HSA:80308] [KO:K00953]
リンク   
ICD-11: 5C52.Y
MeSH: C562935
OMIM: 255100
文献    
  著者
Olsen RKJ, Konarikova E, Giancaspero TA, Mosegaard S, Boczonadi V, Matakovic L, Veauville-Merllie A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Moslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazza D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H
  タイトル
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
  雑誌
Am J Hum Genet 98:1130-1145 (2016)
DOI:10.1016/j.ajhg.2016.04.006
文献    
  著者
Muru K, Reinson K, Kunnapas K, Lillevali H, Nochi Z, Mosegaard S, Pajusalu S, Olsen RKJ, Ounap K
  タイトル
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
  雑誌
Mol Genet Genomic Med 7:e915 (2019)
DOI:10.1002/mgg3.915
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