Branched-chain amino acid metabolism disorders


  • Valine, leucine, and isoleucine are branched-chain amino acids; deficiency of enzymes involved in their metabolism leads to accumulation of organic acids with severe metabolic acidosis.
    There are numerous disorders of branched-chain amino acid metabolism (see the table) as well as many other amino acid and organic acid metabolism disorders. See also Approach to the Patient With a Suspected Inherited Disorder of Metabolism.


    Branched-chain amino acid metabolism disorders meaning & definition 1 of Branched-chain amino acid metabolism disorders.

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