An Interactive Annotated World Bibliography of Printed and Digital Works in the History of Medicine and the Life Sciences from Circa 2000 BCE to 2024 by Fielding H. Garrison (1870-1935), Leslie T. Morton (1907-2004), and Jeremy M. Norman (1945- ) Traditionally Known as “Garrison-Morton”

16061 entries, 14144 authors and 1947 subjects. Updated: December 10, 2024

ROSENBLOOM, F. M.

1 entries
  • 14198

Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

Science, 155, 1682-84, 1967.

Jay Seegmiller and his colleagues at NIH discovered that the rare genetic disease, Lesch–Nyhan syndrome, was due to a profound deficiency of an enzyme known as hypoxanthine guanine phosphoribosyltransferase, or HGPRT. They reported this as "the first example of a relation between a specific enzyme defect and abnormal compulsive behavior and simultaneously as the 1st enzyme defect in purine metabolism demonstrated in a neurological disease."

Order of authorship in the original publication: Seegmiller, Rosenbloom, Kelly.

(Thanks to Juan Weiss for this reference and its interpretation.)



Subjects: ENDOCRINOLOGY, PEDIATRICS