Public release date: 5-Sep-2013 [ | E-mail | Share ]

Contact: Dan Meyers dan.meyers@ucdenver.edu 303-724-7904 University of Colorado Denver

An international team of scientists, including University of Colorado School of Medicine and Children's Hospital Colorado researchers, has discovered a new disease related to an inability to process Vitamin B12.

The disorder is rare but can be devastating.

"Some people with rare inherited conditions cannot process vitamin B 12 properly," says CU researcher Tamim Shaikh, PhD, a geneticist and senior author of a paper about the new disease. "These individuals can end up having serious health problems, including developmental delay, epilepsy, anemia, stroke, psychosis and dementia."

The discovery is important because it could help doctors diagnose the disease and, eventually, could lead to prevention or treatment. But there is more to the story than that.

A 9-year-old Colorado boy named Max Watson, who because of his metabolic disease uses a computer to communicate, was the first patient in whom this discovery was made.

His older sister Abbey, 15, volunteered in the CU lab that helped achieve this medical breakthrough.

His parents cooperated with the study knowing that the results likely would not help their son but might help future patients.

The discovery, published today in The American Journal of Human Genetics, illustrates the complex and relatively new realm of medical discovery where researchers peer into the genetic make-up of patients to discern what went wrong to cause a disease.

Read the original:
Peering into genetic defects, CU scientists discover a new metabolic disease

Comments are closed.