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Inborn Metabolic Diseases pp 365–372Cite as

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

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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 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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Authors
  1. O. Simell
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  2. K. Parto
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Editor information

Editors and Affiliations

  1. University Children’s Hospital, Oostersingel 59, 9713 EZ, Groningen, The Netherlands

    John Fernandes M.D.

  2. Hospital Necker-Enfants Malades, 149, Rue de Sèvres, 75743, Paris Cedex, France

    Jean-Marie Saudubray M.D.

  3. International Institute of Cellular and Molecular Pathology, Avenue Hippocrate 75, 1200, Brussels, Belgium

    Georges Van den Berghe M.D.

  4. Sendai, Japan

    K. Tada

  5. Portland, Oregon, USA

    N. R. M. Buist

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© 1995 Springer-Verlag Berlin Heidelberg

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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

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-03149-0

  • Online ISBN: 978-3-662-03147-6

  • eBook Packages: Springer Book Archive

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