James Shoemaker, M.D.
Screening children for inborn errors of metabolism using gas chromatography-mass spectrometry and evaluation of special nutritional needs in children with Down's syndrome.
Office: DRC, Room 431
Phone: (314) 977-9230
M.D., 1981, Ph.D., 1984, University of Illinois at Urbana-Champaign
Our clinical activities include screening for inborn errors of metabolism in children by quantifying chemicals in body fluids by gas chromatography-mass spectrometry. We developed a new method of sample preparation which allows carbohydrates and amino and organic acids to be detected in the same sample. Our current research is concerned with the evaluation of special nutritional needs in children with Down syndrome and the diagnosis of vitamin deficiency by quantitation of urinary metabolites after an oral dose of amino acids and other food constituents.
- Targeted mutagenesis of mitochondrial carbonic anhydrases VA and VB implicates both enzymes in ammonia detoxification and glucose metabolism.
Shah GN, Rubbelke TS, et al. Proc Natl Acad Sci USA. (2013) 110(18):7423-8.
- Substrate oxidation and cardiac performance during exercise in disorders of long chain fatty acid oxidation.
Behrend AM, Harding CO, et al. Mol Genet Metab. (2012) 105(1):110-5.