KEGG   DISEASE: MTO 欠損による口腔外由来口臭
エントリ  
H02485                                                             
名称    
MTO 欠損による口腔外由来口臭
概要    
Extraoral halitosis due to MTO deficiency (EHMTO) is a novel inborn error of metabolism. Mutations in SELENBP1 in patients with cabbage-like breath odor have been identified. The malodor was attributable to high levels of methanethiol and dimethylsulfide in their breath. SELENBP1 has been identified as the human methanethiol oxidase (MTO) catalyzing the conversion of methanethiol into formaldehyde, H2S, and hydrogen peroxide.
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
    5C50  アミノ酸または他の有機酸代謝の先天性異常
     H02485  MTO 欠損による口腔外由来口臭
パスウェイ 
hsa00920  Sulfur metabolism
病因遺伝子 
SELENBP1 [HSA:8991] [KO:K17285]
リンク   
ICD-11: 5C50.B
OMIM: 618148
文献    
  著者
Pol A, Renkema GH, Tangerman A, Winkel EG, Engelke UF, de Brouwer APM, Lloyd KC, Araiza RS, van den Heuvel L, Omran H, Olbrich H, Oude Elberink M, Gilissen C, Rodenburg RJ, Sass JO, Schwab KO, Schafer H, Venselaar H, Sequeira JS, Op den Camp HJM, Wevers RA
  タイトル
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
  雑誌
Nat Genet 50:120-129 (2018)
DOI:10.1038/s41588-017-0006-7
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