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Disorders of Organic Acid Metabolism

  • Chapter
Biology of Brain Dysfunction

Abstract

Following the widespread amino acid screening programs of the 1950s and early 1960s using paper and ion-exchange column chromatography, numerous amino acidemias were discovered. However, the inborn errors detected by amino acid chromatography were limited to those with defective enzymes in the first two steps of amino acid metabolism. In these cases, the parent amino acid or its keto analogue accumulates.(1) After the two early steps, namely transamination and oxidative decarboxylation, most of the amino acids are metabolized to so-called “organic acids.” The parent amino acids could easily be identified by the ninhydrin reaction, and keto acids could be identified as dinitrophenylhydrozones. The “organic acids,” however, were difficult to detect by the then-existing methods. Because of these technical limitations, enzymatic defects that occur at later stages of amino acid metabolism were not discovered until 1966.

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Authors and Affiliations

  1. Department of Human Genetics, Yale University School of Medicine, New Haven, Connecticut, USA

    Kay Tanaka

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  1. Kay Tanaka
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  1. New York State Institute for Basic Research in Mental Retardation, Staten Island, New York, USA

    Gerald E. Gaull

  2. Mount Sinai School of Medicine, City University of New York, New York, New York, USA

    Gerald E. Gaull

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© 1975 Plenum Press, New York

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Tanaka, K. (1975). Disorders of Organic Acid Metabolism. In: Gaull, G.E. (eds) Biology of Brain Dysfunction. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-2673-1_3

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  • DOI: https://doi.org/10.1007/978-1-4684-2673-1_3

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