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The aim of this research study is to develop and validate several clinical molecular genetic lab tests for the confirmation of biochemical genetic test results.
The purpose of this study is to prospectively collect a microscopic biopsy from individuals who have a clinical suspicion of a possible gastrointestinal disaccharidase deficiency, and to develop and validate clinical enzymatic assays for intestinal disaccharidase lactase, palatinase, sucrase, maltase, or glucoamylase (Disaccharidase Enzyme Panel) in order to detect deficiencies in these enzymes, thereby benefiting the diagnosis of gastrointestinal disorders at Mayo Clinic.
The Mitochondrial Disease Biobank is a place to store blood and tissue samples from people with symptoms of mitochondrial disease. Health information about each donor will be attached to the samples.
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