Mol Genet Metab 2016 Jul 27;118(3):143-4. Epub 2016 Apr 27.
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States; Harvard Medical School, Boston, MA, United States. Electronic address:
Harvey Mudd was the father of methionine metabolic disorders. Beginning with his identification of the enzyme defect in homocystinuria, he co-discovered cobalamin C disorder as the first known human disorder of vitamin B12 metabolism, thereby extending our concept of homocystinuria as a key feature of related disorders rather than a single disease, and identified new disorders that produce hypermethioninemia. He had no equal in our understanding of how critical methionine metabolism is to human homeostasis. Read More