Lysine malabsorption syndrome: a new type of transport defect.

A 21-month-old girl with physical and mental retardation is described. She excreted an increased amount of lysine in urine but no excessive quantities of arginine, ornithine, or cystine. Serum level of lysine was found to be low but the levels of the other amino acids were within normal limits. The endogenous renal clearance rates of amino acids showed a marked high value of lysine and normal values of the other dibasic amino acids. Oral loading test of amino acids revealed an imparied absorption of lysine and normal absorption of arginine, ornithine, and cystine in the intestine. These results indicate a specific defect in transport of lysine in the intestine as well as in the renal tubule.