Overview of amino acid and organic acid metabolism disorders


  • The kidneys actively reabsorb significant amounts of amino acids. Defects of amino acid transport in the renal tubule include cystinuria and Hartnup disease, which are discussed elsewhere. Amino acid and organic acid metabolism disorders include

    Branched-chain amino acid disorders
    Methionine metabolism disorders
    Phenylketonuria
    Tyrosine metabolism disorders
    Urea cycle disorders

    In addition, there are a number of other disorders of amino acid and organic acid metabolism, including those involving beta- and gamma-amino acids, the gamma-glutamyl cycle, glycine, histidine, lysine, proline and hydroxyproline, and miscellaneous other amino acid disorders.


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