The remarkable S. Harvey Mudd - A reminiscence

Mol Genet Metab. 2016 Jul;118(3):143-144. doi: 10.1016/j.ymgme.2016.04.013. Epub 2016 Apr 27.

Abstract

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.

Keywords: Cobalamin C disorder; Cystathionine β-synthase; Harvey Mudd; Homocystinuria; Methionine metabolism.

Publication types

  • Biography
  • Historical Article

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Biomedical Research
  • Glycine N-Methyltransferase / deficiency*
  • History, 20th Century
  • History, 21st Century
  • Homocystinuria / diagnosis*
  • Humans
  • Male
  • Methionine / metabolism*
  • Vitamin B 12 Deficiency / congenital*
  • Vitamin B 12 Deficiency / diagnosis

Substances

  • Methionine
  • Glycine N-Methyltransferase

Supplementary concepts

  • Hypermethioninemia
  • Methylmalonic acidemia with homocystinuria

Personal name as subject

  • Harvey Mudd