Abstract
Inherited defects in amino acid transport at the cell membrane are usually expressed as selective renal aminoaciduria, i.e., the concentration of affected amino acids is high in the urine, but normal or low in plasma. Intestinal absorption of the affected amino acids is almost always impaired as well. The clinical symptoms may be due to substrate excess in the urine or deficiency of the substrates in the body. Consequently, the symptoms in cystinuria are caused by formation of renal stones, as cystine is poorly soluble in urine; the pellagra-like skin disease and ataxia in Hartnup disease are due to deficiency of tryptophan and, subsequently, of niacin; and hyperammonemia in lysinuric protein intolerance is the result of deficiency of arginine and ornithine, which are obligatory urea cycle intermediates.
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Simell, O., Parto, K. (1995). Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Hartnup Disease, and Lysinuric Protein Intolerance. In: Fernandes, J., Saudubray, JM., Van den Berghe, G., Tada, K., Buist, N.R.M. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-03147-6_34
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DOI: https://doi.org/10.1007/978-3-662-03147-6_34
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