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Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder

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Inborn Metabolic Diseases

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Abstract

Inherited defects in amino acid transport at the cell membrane are usually expressed as selective renal aminoaciduria, i.e., the concentration of the affected amino acids is high in the urine while it is normal or low in plasma. Intestinal absorption of the affected amino acids is also almost always impaired. The clinical symptoms thus result from excess amounts of certain amino acids in the urine or lack of them in the tissues. Consequently, in cystinuria renal stones may be formed because of high urinary concentration of poorly soluble cystine. In lysinuric protein intolerance (LPI), the transporter defect for the dibasic cationic amino acids leads to poor intestinal absorption and urinary loss of arginine, ornithine and, particularly, lysine. Deficiencies of arginine and ornithine, intermediates of the urea cycle, lead to hyperammonemia and protein intolerance, and insufficient supply of lysine probably plays a major role in the growth retardation and skeletal and immunological manifestations of LPI. The pellagra-like dermatitis and ataxia in Hartnup disorder are attributed to deficiency of tryptophan, the precursor of niacin synthesis.

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Authors and Affiliations

  1. Department of Pediatrics, University of Turku, Klinamyllynkatu 4-8, 20520, Turku, Finland

    Kirsti Näntö-Salonen & Olli G. Simell

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  1. Kirsti Näntö-Salonen
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  2. Olli G. Simell
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Editors and Affiliations

  1. Department of Pediatrics, University Hospital Groningen, Burgemeester Weertslaan 31, 8162 DP, Epe, The Netherlands

    John Fernandes

  2. Unité de Métabolisme, Département de Pédiatrie, Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75043, Paris Cedex 15, France

    Jean-Marie Saudubray

  3. Metabolic Research Group, Christian de Duve Institute of Cellular Pathology, University of Louvain Medical School, Avenue Hippocrate 75-39, 1200, Brussels, Belgium

    Georges van den Berghe

  4. Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Hospital Road, Pendlebury, Manchester, M27 4HA, UK

    John H. Walter

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© 2006 Springer Medizin Verlag Heidelberg

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Näntö-Salonen, K., Simell, O.G. (2006). Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder. In: Fernandes, J., Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg . https://doi.org/10.1007/978-3-540-28785-8_26

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  • DOI: https://doi.org/10.1007/978-3-540-28785-8_26

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