Basolateral-membrane transport defect for lysine in lysinuric protein intolerance.
In lysinuric protein intolerance intestinal, hepatic, and renal diaminoacid transport is defective, causing malnutrition. In patients fed with lysylglycine plasma glycine increased normally, but lysine increased as poorly as with free lysine. This is the first demonstration of defective peptide absorption. The primary defect is suggested to be at the basolateral cell membrane.
D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism*; D000599:Amino Acids, Diamino / Q000378:metabolism*; D001692:Biological Transport; D002462:Cell Membrane / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D002956:Citrulline / Q000378:metabolism; D005260:Female; D005998:Glycine / Q000378:metabolism; D006801:Humans; D007223:Infant; D007413:Intestinal Mucosa / Q000378:metabolism; D007668:Kidney / Q000378:metabolism; D008099:Liver / Q000378:metabolism; D008239:Lysine / Q000378:metabolism / Q000652:urine*; D008297:Male
D000599:Amino Acids, Diamino; D002956:Citrulline; D008239:Lysine; D005998:Glycine