Lysine malabsorption syndrome: a new type of transport defect.

@article{Omura1976LysineMS,
  title={Lysine malabsorption syndrome: a new type of transport defect.},
  author={Kiyoshi Omura and N Yamanaka and S. Higami and O T Matsuoka and Atsuko Fujimoto},
  journal={Pediatrics},
  year={1976},
  volume={57 1},
  pages={
          102-5
        }
}
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… 
Lysinuric protein intolerance presenting deficiency of argininosuccinate synthetase.
A 35-yr-old woman, who suffered from relapsing coma with hyperammonemia for 17 yr, was diagnosed to have lysinuric protein intolerance (LPI). Increased urinary dibasic amino acids (lysine, arginine
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Only negligible amounts of amino acids and glucose are normally present in the final urine, reflecting very efficient reabsorption mechanisms for these organic solutes in the proximal tubule. Renal
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It is concluded that low-dose oral lysine supplementation normalizes plasma lysinuric protein intolerance in patients with LPI, and is safe and well tolerated at least in short-term use.
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Disorders of phosphate and amino acid transport, although uncommon clinically, are of major pathophysiological importance and have provided much information on the genetics of transport, which forms the basis for sound genetic counseling.
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The identification of most epithelial amino acid transporters over the past 15 years allows the definition of these disorders at the molecular level and provides a clear picture of the functional cooperation between transporter in the apical and basolateral membranes of mammalian epithelial cells.
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Heteromeric amino acid transporters are composed of a polytopic membrane protein and a disulfide-linked type II membrane glycoprotein (the heavy subunit), which confer the amino acid transport specificity to the HAT.
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It is suggested that prophylactic lysine may be useful in managing selected cases of recurrent herpes simplex labialis if serum l Lysine levels can be maintained at adequate concentrations.
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Heteromeric amino acid transporters (HATs) are composed of a heavy (SLC3 family) and a light subunit and have begun to reveal the basis of renal and intestinal reabsorption of amino acids in mammals.
Amino Acid Transport Across the Mammalian Intestine.
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Mouse models of most intestinal transporters illustrate their contribution to amino acid homeostasis and systemic physiology and can now be explained as differences of amino acid transporter distribution along the intestine.
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