Michael Lesch in the context of "Johns Hopkins School of Medicine"

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⭐ Core Definition: Michael Lesch

Michael Lesch (June 30, 1939 – March 19, 2008) was an American physician and medical educator who helped identify an important genetic disorder associated with intellectual disability and self-mutilation. This disease is now known as the Lesch–Nyhan syndrome. In the mid-1960s when the syndrome was discovered, Lesch was a research associate working at the Laboratory of General and Comparative Biochemistry at the NIH National Institute of Mental Health in Bethesda, Maryland. William Nyhan, a pediatrician and biochemical geneticist, was his mentor. Lesch was 30 years old when he discovered the disease.

Lesch completed his medical training at Johns Hopkins in the Osler Medical Service in 1964. While at Hopkins he earned the distinguished honor of president, Alpha Omega Alpha, The Johns Hopkins University Chapter.

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Michael Lesch in the context of Lesch-Nyhan Syndrome

Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome. LNS affects about 1 in 380,000 live births. The disorder was first recognized and clinically characterized by American medical student Michael Lesch and his mentor, pediatrician William Nyhan, at Johns Hopkins.

The HGPRT deficiency causes a build-up of uric acid in all body fluids. The combination of increased synthesis and decreased utilization of purines leads to high levels of uric acid production. This results in both high levels of uric acid in the blood and urine, associated with severe gout and kidney problems. Neurological signs include poor muscle control and moderate intellectual disability. These complications usually appear in the first year of life. Beginning in the second year of life, a particularly striking feature of LNS is self-mutilating behaviors, characterized by lip and finger biting. Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington's disease. The cause of the neurological abnormalities remains unknown. Because a lack of HGPRT causes the body to poorly utilize vitamin B12, some males may develop megaloblastic anemia.

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Lesch–Nyhan syndrome → Syndrome → William Nyhan → Johns Hopkins School of Medicine → The Osler Medical Service → Alpha Omega Alpha →