Determination of lactic acid, pyruvic acid, and ketone bodies in serum and cerebrospinal fluid by HPLC

摘要

INBORN ERRORS OF metabolism are genetic disorders due to the deficiency of specific enzyme involved in the catabolism of amino acids, carbohydrates, lipids, and nucleic acids. In the majority of these diseases, the direct metabolic effects of the enzyme deficiency are an accumulation of metabolites upstream of the site of action of the enzyme involved, and a defect in the metabolic pathway downstream of that site.