Trehalase deficiency



Trehalase deficiency is one of the clinical classifications of disaccharidase deficiency. This disease, also known as disaccharid intolerance, refers to various congenital or acquired diseases, which makes the intestinal mucosal brush-like disaccharidase deficiency, which causes the digestive and absorption of disaccharide to be disordered. When eating foods containing disaccharide A series of symptoms and signs that occur.



There are many disaccharidases in the small intestinal mucosa of normal people. For example, lactase can decompose lactose into galactose and glucose. Maltase can decompose maltose into glucose and isomaltose. Isomaltase can decompose isomaltose into two molecules. Glucose; Sucrose can decompose sucrose into glucose and fructose; and trehalase can decompose trehalose into two molecules of glucose. For some reason, the disaccharide enzyme is deficient, and the digestive absorption of the disaccharide is hampered. Clinically, this disease is not uncommon, but it is often ignored.


an examination

Related inspection

Abdominal vascular ultrasonography abdominal MRI

Infants may have insultainase and isomaltase deficiency due to genetic factors. The defect of sucrose-isomalt malabsorption is mainly in sucrose, and the isomaltose defect is secondary. Studies have shown that the enzyme is defective in intracellular processing and accumulates in the endoplasmic reticulum. The enzyme complex is blocked in the Golgi complex, while the altered enzyme is transported to the cell surface. Due to the above various factors, this single gene disease can be heterogeneous. The enzyme gene is located on chromosome 3q and belongs to the autosomal recessive hereditary disease. Homozygous has symptoms throughout life, and heterozygotes can only disappear after symptoms in infancy. Give fresh yeast or live yeast to alleviate its symptoms.

The gene for human lactase phlorizin hydrolase is located on chromosome 2. When the infant's small intestinal mucosal epithelial brush border is deficient in lactase, watery diarrhea occurs after the first breastfeeding.

The most common deficiency of adult disaccharidase is lactase deficiency. Lactase activity is highest in neonates and can be reduced to 10% of its maximum in the future, at this level in adults with lactase deficiency. After the baby is weaned, the lactase is gradually reduced, and it is easy to cause diarrhea when the milk is taken. The lack of this enzyme is genetically related, accounting for 5% to 30% of Caucasians, and 75% of people of color, including Asians and Africans. The lack of sucrose-isomaltase can be reduced to 10% to 20% of normal, and the intestinal mucosa is normal. The reason is unknown. In addition, in the case of gastrointestinal infections, disaccharidase can also be temporarily secreted insufficiently.


Differential diagnosis

Differential diagnosis of trehalase deficiency:

Should exclude a variety of secondary lactase deficiency such as celiac disease, extensive small intestine resection, whipple disease, Crohn disease, Giardia lamblia, intestinal lymphosarcoma, small intestinal malignant lymphoma and other diseases (such as Malabsorption caused by alcohol, neomycin, and cholestyramine.

1, celiac disease: gluten-induced enteropathy (also known as coeliac disease, nontropical rosacea (nontropic sprue), high incidence in North America, Northern Europe, Australia, rare in China . The ratio of male to female is 1:1.3 to 2.0. More women than men can be affected at any age. The peak age of the disease is mainly children and young people, but the number of elderly people in this disease has increased in recent years.

2, whipple disease: Whipple disease is an uncommon chronic bacterial infection, with multiple systems involved. Usually involving the small intestine, the symptoms of the gastrointestinal tract are prominent. Typically, the intestinal mucosa is infiltrated by foam macrophages containing periodic acid (PAS) positive substances, and the villi are deformed. Under electron microscopy or high-resolution optical microscopy, bacteria can be seen in the lamina propria, PAS-positive macrophages and bacteria can appear outside the intestine, such as lymph nodes, spleen, liver, central nervous system, heart and synovium.

3. Crohn's disease: Crohn's disease is a gastrointestinal granulomatous inflammatory disease of unknown etiology. This disease and ulcerative colitis have now been collectively referred to as inflammatory bowel disease. Lesions are more common in the distal ileum and adjacent colon, often in a segmental distribution. The age of onset is mostly between 15 and 40 years old, and there are slightly more men than women. The cause has not been known so far, and it is currently believed that this disease may be a combination of various factors.

4. Giardia lamblia: The Giardia lamblia disease is referred to as Giardia, which is mainly parasitic in the small intestine of humans and certain mammals. A. Yar and WD Blue Boer in honor of the worm. Named to cause giardiasis with diarrhea as the main symptom. At first, Giardia was only regarded as a symbiotic intestinal protozoa. Since 1976, the disease has spread all over the world, and people have recognized the pathogenicity of the insect. This disease is more common in children and tourists, so it is also called "tourist diarrhea." Today, Giardiasis has been listed as one of the ten major parasitic diseases that endanger human health worldwide.

5. Small intestinal lymphosarcoma: Lymphosarcoma originates from the lymphoid tissue in the submucosal layer of the intestinal wall. When the lesion develops along the intestinal wall and deepens, it can invade the serosal layer, the mesentery and its lymph nodes, and infiltrate the mucosa inward. To make the mucosal folds flat and stiff. The intestine can be narrower or slightly wider than normal, and the boundary between the normal intestine and the normal intestine is less obvious than cancer. Generally, there is no localized nodular mass or obvious ulcer formation.

6, small intestinal malignant lymphoma: primary adenoma in the small intestine, carcinoid, leiomyosarcoma, lymphoma and other malignant tumors. Common manifestations are obstruction, bleeding, and perforation. Diagnosis is more difficult, and wire-guided contrast-enhanced small intestine and small intestine endoscopy and mesenteric angiography are required for diagnosis.

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