Screening Mutant Mice for Inborn Errors of Metabolism

We described our methods of screening mice for inborn errors of metabolism including metabolic storage diseases, disorders of amino acid metabolism, and organic acidemias. Our screening program consisted of histopathology, quantitative serum amino acid analysis, and urinary organic acid analysis. In this preliminary study, we tested mice representing 28 different mutations whose clinical signs suggested a possible metabolic disorder. We documented the normal values for mouse serum amino acids and urinary organic acids. No mutant tested had relevant or consistent biochemical abnormalities as determined by our screening tests. Some mutants showed histopathology as described previously. However, we were unable to confirm the histopathology described originally for the shambling mutant.