Overview of Amino Acid and Organic Acid Metabolism Disorders

ByMatt Demczko, MD, Mitochondrial Medicine, Children's Hospital of Philadelphia
Reviewed/Revised Mar 2024
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The kidneys actively reabsorb significant amounts of amino acids. Defects of amino acid transport in the renal tubule include cystinuria and Hartnup disease.

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, the gamma-glutamyl cycle, , histidine, lysine, proline and hydroxyproline, and miscellaneous other amino acid disorders.

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More Information

The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.

  1. Online Mendelian Inheritance in Man (OMIM) database: Complete gene, molecular, and chromosomal location information

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