Combined lactase and trehalase deficiency as a cause of blood lose in young man

Trehalose is a disaccharide composed of two glucose that can be found in various plant and animal species. Mammals are not able to synthesize trehalose but it is usually easily enzymatically broken down into 2 molecules of glucose. As a structural additive, trehalose can be used in food mainly for stabilizing proteins. Low trehalase activity (primary trehalase deficiency) leading to intolerance is rare but may appear manifest as a complication of enteropathy from other causes (celiac disease, Crohn's disease, etc.). We present the case of a young 27-year-old male with repeated tenesmus followed by enterorrhagia, weight loss, and elevated markers of inflammation caused by combined lactase and trehalase deficiency. Unique exome sequencing analysis of gene TREH was performed to distinguish between primary and secondary trehalase deficiency.