Standard Article

Mendelian Phenotypes as “Probes” of Renal Transport Systems for Amino Acids and Phosphate

Handbook of Physiology, Renal Physiology

  1. Charles R. Scriver,
  2. Harriet S. Tenenhouse

Published Online: 1 JAN 2011

DOI: 10.1002/cphy.cp080242

Comprehensive Physiology

Comprehensive Physiology

How to Cite

Scriver, C. R. and Tenenhouse, H. S. 2011. Mendelian Phenotypes as “Probes” of Renal Transport Systems for Amino Acids and Phosphate. Comprehensive Physiology. 1977–2016.

Author Information

  1. Departments of Biology and Pediatrics, and Centre for Human Genetics, McGill University, Montreal, Quebec, Canada

Publication History

  1. Published Online: 1 JAN 2011

Abstract

The sections in this article are:

  • 1
    Genetic Considerations
    • 1.1
      Chemical Phenotypes
    • 1.2
      Polypeptide Phenotypes
    • 1.3
      Genotypes
  • 2
    Homeostasis: The Concept of Heritability
  • 3
    Physiological Considerations of Renal Transport
    • 3.1
      Radial Specificity
    • 3.2
      Axial Specificity
    • 3.3
      Chemical Specificity
  • 4
    Mendelian Phenotypes
    • 4.1
      Disorders of Cationic Amino Acid Transport
    • 4.2
      Disorders of Neutral Amino Acid Transport
    • 4.3
      Disorders of Anionic (Acidic) Amino Acid Transport
    • 4.4
      Disorders of Phosphate Transport
    • 4.5
      Fanconi Syndrome and Allied Disorders
  • 5
    Resumé of Findings in Mendelian Renal Transport Phenotypes and Their Implications
    • 5.1
      Taxonomy
    • 5.2
      Heterogeneity of Carriers
    • 5.3
      Homeostasis
  • 6
    Cell Biology and Molecular Genetics