KEGG   DISEASE: Trehalase deficiency
Entry
H02090                      Disease                                

Name
Trehalase deficiency
Description
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.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H02090  Trehalase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C61  Disorders of carbohydrate absorption or transport
     H02090  Trehalase deficiency
Pathway
hsa00500 Starch and sucrose metabolism   
Gene
TREH [HSA:11181] [KO:K01194]
Other DBs
ICD-11: 5C61.3
ICD-10: E74.3
OMIM: 612119
Reference
PMID:3227291
  Authors
Gudmand-Hoyer E, Fenger HJ, Skovbjerg H, Kern-Hansen P, Madsen PR
  Title
Trehalase deficiency in Greenland.
  Journal
Scand J Gastroenterol 23:775-8 (1988)
DOI:10.3109/00365528809090759
Reference
  Authors
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
  Title
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
  Journal
Nature 544:235-239 (2017)
DOI:10.1038/nature22034
Reference
  Authors
Murray IA, Coupland K, Smith JA, Ansell ID, Long RG
  Title
Intestinal trehalase activity in a UK population: establishing a normal range and the effect of disease.
  Journal
Br J Nutr 83:241-5 (2000)
DOI:10.1017/S0007114500000313
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