Trehalase deficiency has been described in two isolated cases in Europe (Bergoz 1971; Madzarovovà-Nohejlova 1973) and at high frequency in a population of Greenland natives (Gudmand-Hoyer et al. 1988) but molecular defects responsible for the deficiency have not yet been described so it is not annotated in Reactome.
Bergoz, R
von Kieckebusch, A, Mantei, N, Semenza, G, James, P, Ruf, J, Galand, G, Wacker, H, Maffia, M, Seiler, P
Kobayashi, Y, Ishihara, R, Kino, M, Sasai-Takedatsu, M, Tokunaga, R, Taketani, S
Galand, G
Madzarovovà-Nohejlova, J
Gudmand-Høyer, E, Skovbjerg, H, Madsen, PR, Fenger, HJ, Kern-Hansen, P
alpha,alpha-trehalase activity of N-seryl-glycosylphosphatidylinositolethanolamine-TREH [plasma membrane]
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