Year: 2023
Type: other
Abstract: In the early 1960, virtually the only known amino acid inborn error of metabolism in North America was phenylketonuria (PKU).However, in London, the laboratory of Dr. Charles Dent was utilizing the novel technique of paper chromatography to identify and investigate additional related metabolic disorders.It was then that a few physicians from North America made their way to London to spend time in the Dent Laboratory, returning home with a technology to test and investigate patients with neurological diseases and other problems.Paramount among them was a young Canadian physician, Dr. Charles Robert Scriver, who had just completed a residency in pediatrics at the Children's Hospital in Boston.With a McLaughlin Traveling Fellowship Scriver devoted 2 years to the Dent laboratory immersing himself in chromatography and using this technology to identify a new disease, hyperprolinemia, in a family he had followed during his residency in Boston.Upon returning to Canada, Scriver established an investigative unit at the McGill University-Montreal Children's Hospital.Through the enormous body of work from this laboratory and through his writings and lectures Dr. Scriver expanded inborn errors of metabolism into what is now known as biochemical genetics, a major subsection of the burgeoning field of medical genetics.Charles Scriver died on April 7, 2023, at the age of 92.He had suffered from Parkinson disease for over a decade and had a stroke a few days prior to his death.
DOI: 10.1002/jimd.12624
Authors: Harvey L. Levy, Christineh N. Sarkissian
Institution: Boston Children's Hospital
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4377565471