Dialytic Therapy of Inborn Errors of Metabolism in Case of Acute Decompensation

Some inborn errors of metabolism involve enzyme defects in the catabolic pathway of amino acids that induce a metabolic encephalopathy by accumulation of neurotoxic metabolites (endogenous intoxication). In these diseases, detailed in this chapter, intermediate products of amino acid catabolism are not detoxified by the liver, accumulate, and contribute to neurologic symptoms. To restaure neurological function, the intermediate products accumulated are removed through a combination of nutritional, pharmacological and dialysis treatments.