KEGG   DISEASE: トレハラーゼ欠乏症
エントリ  
H02090                                                             
名称    
トレハラーゼ欠乏症
概要    
Trehalase deficiency is a disorder characterized by abdominal pain, distention, and flatulence after trehalose ingestion. Trehalose is a disaccharide found in mushrooms, algae, and insect haemolymph. Intestinal trehalase (encoded by TREH) is a beta-galactosidase which catalyses the hydrolysis of trehalose to two glucose molecules for absorption.
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
   代謝物質の吸収または輸送の疾患
    5C61  糖質の吸収または輸送の疾患
     H02090  トレハラーゼ欠乏症
パスウェイ 
hsa00500  Starch and sucrose metabolism
病因遺伝子 
TREH [HSA:11181] [KO:K01194]
リンク   
ICD-11: 5C61.3
OMIM: 612119
文献    
PMID:3227291
  著者
Gudmand-Hoyer E, Fenger HJ, Skovbjerg H, Kern-Hansen P, Madsen PR
  タイトル
Trehalase deficiency in Greenland.
  雑誌
Scand J Gastroenterol 23:775-8 (1988)
DOI:10.3109/00365528809090759
文献    
  著者
Saleheen D, Natarajan P, Armean IM, Zhao W, Rasheed A, Khetarpal SA, Won HH, Karczewski KJ, O'Donnell-Luria AH, Samocha KE, Weisburd B, Gupta N, Zaidi M, Samuel M, Imran A, Abbas S, Majeed F, Ishaq M, Akhtar S, Trindade K, Mucksavage M, Qamar N, Zaman KS, Yaqoob Z, Saghir T, Rizvi SNH, Memon A, Hayyat Mallick N, Ishaq M, Rasheed SZ, Memon FU, Mahmood K, Ahmed N, Do R, Krauss RM, MacArthur DG, Gabriel S, Lander ES, Daly MJ, Frossard P, Danesh J, Rader DJ, Kathiresan S
  タイトル
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
  雑誌
Nature 544:235-239 (2017)
DOI:10.1038/nature22034
文献    
  著者
Murray IA, Coupland K, Smith JA, Ansell ID, Long RG
  タイトル
Intestinal trehalase activity in a UK population: establishing a normal range and the effect of disease.
  雑誌
Br J Nutr 83:241-5 (2000)
DOI:10.1017/S0007114500000313
LinkDB    

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