The kidneys actively reabsorb significant amounts of amino acids. Defects of amino acid transport in the renal tubule include cystinuria Cystinuria Cystinuria is an inherited defect of the renal tubules in which reabsorption of cystine (the homodimer of the amino acid cysteine) is impaired, urinary excretion is increased, and cystine stones... read more and Hartnup disease Hartnup Disease Hartnup disease is a rare autosomal recessive disease involving malabsorption and increased renal excretion of tryptophan and other amino acids. Also, conversion of tryptophan to niacinamide... read more , which are discussed elsewhere. Amino acid and organic acid metabolism disorders include
In addition, there are a number of other disorders of amino acid and organic acid metabolism, including those involving beta- and gamma-amino acids Beta-Amino Acid and Gamma-Amino Acid Disorders , the gamma-glutamyl cycle Gamma-Glutamyl Cycle Disorders , glycine Glycine Metabolism Disorders , histidine Histidine Metabolism Disorders , lysine Lysine Metabolism Disorders , proline and hydroxyproline Proline and Hydroxyproline Metabolism Disorders , and miscellaneous other amino acid disorders Miscellaneous Amino Acid and Organic Acid Metabolism Disorders .
The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
Online Mendelian Inheritance in Man® (OMIM®) database: Complete gene, molecular, and chromosomal location information