Diseases of amino acid transport

Disorders of epithelial transport affecting intestinal and renal transport

Proteins in our nutrition are broken down by in the intestine into amino acids, di- and tripeptides. A variety of amino acid transporters take up these amino acids into epithelial cells lining the intestine and pass them into the blood stream. In the kidney amino acids are filtered and then reabsorbed to avoid wasting of valuable nutrients. Often the transporters in the kidney are the same as in the intestine. A number of disorders are associated with defects in the epithelial transport of amino acids, such as Hartnup disorder, iminoglycinuria and dicarboxylic aminoaciduria. Projects are available to characterise these transporters and to study human mutations causing membrane transporter diseases.

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