Latest Lesch–Nyhan syndrome Stories
A research team, headed by Theodore Friedmann, MD, professor of pediatrics at the University of California, San Diego School of Medicine, says a gene mutation that causes a rare but devastating neurological disorder known as Lesch-Nyhan syndrome appears to offer clues to the developmental and neuronal defects found in other, diverse neurological disorders like Alzheimer's, Parkinson's and Huntington's diseases.
Teens with high levels of uric acid appear to be at increased risk for high blood pressure.
As an alternative to a conventional treatment for gout that some patients may not respond to, patients with severe, chronic gout who received the medication pegloticase for 6 months had greater improvement in measures of uric acid levels as well as physical function and quality of life.
Injections of pegloticase, a modified porcine enzyme, can produce significant and sustained clinical improvements in 2 out of 5 patients with chronic gout that is resistant to conventional therapies.
In humans, inherited mutations in a gene called HPRT1 lead to very specific self-destructive behavior.
LONDON, May 25, 2011 /PRNewswire/ -- Ardea Biosciences, Inc.