5C61.3/E74.8 Alpha, alpha trehalase deficiency



Alpha, alpha trehalase deficiency is an inherited metabolic disorder caused by a mutation in the gene that encodes alpha, alpha trehalase, a key enzyme involved in the digestion of carbohydrates. The mutation results in a deficiency of the enzyme, leading to impaired digestion of carbohydrates.


Alpha, alpha trehalase deficiency is usually diagnosed through a combination of clinical signs and symptoms and biochemical tests. These tests may include measuring the levels of alpha, alpha trehalase and other related enzymes in the blood, urine, and stool.

Differential diagnosis

Alpha, alpha trehalase deficiency can be confused with other disorders such as cystic fibrosis, glycogen storage disease, and celiac disease.


Treatment for alpha, alpha trehalase deficiency is focused on managing the symptoms and preventing complications. Dietary modifications may include avoiding certain carbohydrates and supplementing with digestive enzymes. In some cases, medications such as antibiotics may be prescribed.


The prognosis for individuals with alpha, alpha trehalase deficiency is generally good. With proper management, most individuals are able to lead normal, healthy lives. However, if left untreated, the disorder can lead to complications such as malabsorption and malnutrition.

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