Lesch-Nyhan Syndrome: Facts & History

Instructor: Artem Cheprasov
This lesson presents a very real but also very scary syndrome. It's called Lesch-Nyhan syndrome, and it can cause a person to want to hurt themselves. Find out more about its history and facts in this lesson.

Lesch-Nyhan Syndrome

We can all agree that any developmental disorder is unfortunate. What about one that causes a person to want to hurt themselves over and over again? Such is the case with a genetic disorder called Lesch-Nyhan Syndrome. In this lesson, you're going to learn about its interesting history and facts.

History of the Disorder


In 1962, a mother took her four-year-old son to the emergency department at Johns Hopkins medical center. The complaint? The boy was in pain when he went #2. What's more, he apparently had sand in his diaper, which made no sense to his mother.

The boy's diaper was examined, only to find that it wasn't sand in his diaper. The boy's diaper had a lot of uric acid in it, specifically crystals stemming from uric acid called urate crystals. Uric acid is a waste product that's excreted by the kidneys. It is derived from the breakdown of purine compounds. Purine compounds can be found in high amounts in some meats and seafood. High levels of uric acid in the body also cause a famous condition you may have heard of, called gout.

Further Investigation

The resident initially in charge of the case wasn't exactly sure why the boy was having this issue. He consulted a research scientist called Dr. William L. Nyhan and his medical student, Micheal Lesch. The latter two examined the boy.

They found no signs of gout but discovered a lot of different problems. For instance, the boy had serious problems developing his movement-based skills. At the same time, he had choreoathetosis, a condition characterized by involuntary, repetitive and slow writhing movements. While the child tried to talk with Nyhan and Lesch, he had difficulty doing so because of the dysarthria, a condition in which a person is unable to articulate as a result of the inability to control the muscle of speech.

More Symptoms

Unfortunately things got even more horrific from there. The boy had bandages on his hands. When removed, he was revealed to be missing the tips of his fingers. His lips were damaged as well. It turned out the boy bit off parts of his fingers and lips. Still worse, this boy wasn't alone: He had a brother exhibiting the same physical signs.

Two years later, in 1964, Lesch and Nyhan published a paper describing this disorder, and it now bears their name: Lesch-Nyhan syndrome. From thereon, the scientific community has tried to unearth more details as to its specific cause. A partial answer didn't come until 1967, when a researcher by the name of Jay Edwin Seegmiller found that the disorder was caused by a problem with an enzyme. An enzyme is a biomolecule that speeds up chemical reactions.

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