Dr. William Leo Nyhan, MD PhD (born March 13, 1926) is currently Professor of Pediatrics

Pediatrics

Pediatrics or paediatrics is the branch of medicine that deals with the medical care of infants, children, and adolescents. A medical practitioner who specializes in this area is known as a pediatrician or paediatrician...

 at UC San Diego School of Medicine

UC San Diego School of Medicine

University of California, San Diego School of Medicine is a medical school located in La Jolla, California, USA.The school held its first class in 1968 and conferred its first degrees in 1972. The school aggressively recruited leading physician scientists of its era and rapidly gained a reputation...

 in La Jolla, CA. He has also held positions at Johns Hopkins University

Johns Hopkins University

The Johns Hopkins University, commonly referred to as Johns Hopkins, JHU, or simply Hopkins, is a private research university based in Baltimore, Maryland, United States...

 School of Medicine, University of Miami

University of Miami

The University of Miami is a private, non-sectarian university founded in 1925 with its main campus in Coral Gables, Florida, a medical campus in Miami city proper at Civic Center, and an oceanographic research facility on Virginia Key., the university currently enrolls 15,629 students in 12...

 School of Medicine. In addition, Dr Nyhan has served on a number of advisory committees, pediatric advisory boards, and on the board of research foundations. His over 56 years of experience and interests in areas of research span a wide variety of disorders of amino acid metabolism

Metabolism

Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...

. These include 4-Hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, and propionic acidemia. He is most-widely known as the co-discoverer of Lesch-Nyhan syndrome

Lesch-Nyhan syndrome

Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...

.

Currently, he is involved in the ongoing development of tandem mass spectrometry

Tandem mass spectrometry

Tandem mass spectrometry, also known as MS/MS or MS2, involves multiple steps of mass spectrometry selection, with some form of fragmentation occurring in between the stages.-Tandem MS instruments:...

 for use in newborn screening

Newborn screening

Newborn screening is the process by which infants are screened shortly after birth for a list of disorders that are treatable, but difficult or impossible to detect clinically. Screening programs are often run by state or national governing bodies with the goal of screening all infants born in the...

 and research, and is involved in identifying the cause(s) of progressive neurologic disability in MMA after liver

Liver

The liver is a vital organ present in vertebrates and some other animals. It has a wide range of functions, including detoxification, protein synthesis, and production of biochemicals necessary for digestion...

 transplantation

Organ transplant

Organ transplantation is the moving of an organ from one body to another or from a donor site on the patient's own body, for the purpose of replacing the recipient's damaged or absent organ. The emerging field of regenerative medicine is allowing scientists and engineers to create organs to be...

. Dr. Nyhan has studied the neuropathology

Neuropathology

Neuropathology is the study of disease of nervous system tissue, usually in the form of either small surgical biopsies or whole autopsy brains. Neuropathology is a subspecialty of anatomic pathology, neurology, and neurosurgery...

 of propionic acidemia including the manifestation of basal ganglia

Basal ganglia

The basal ganglia are a group of nuclei of varied origin in the brains of vertebrates that act as a cohesive functional unit. They are situated at the base of the forebrain and are strongly connected with the cerebral cortex, thalamus and other brain areas...

 infarction and the neurologic non-metabolic presentation of PA. Current research includes evaluating the use of dichloroacetate (DCA) in treating a broad range of patients with mitochondrial disease

Disease

A disease is an abnormal condition affecting the body of an organism. It is often construed to be a medical condition associated with specific symptoms and signs. It may be caused by external factors, such as infectious disease, or it may be caused by internal dysfunctions, such as autoimmune...

 leading to lactic acidemia.

External links

• http://health.ucsd.edu/