Medical problems that have baffled the experts are now becoming less mysterious.
Thanks to a new type of genetic sequence testing that's able to pinpoint the problem.
"Vision loss, vomiting, constipation, irritable bowel syndrome, seizures," said Dr. Steve Sommer, of Medomics.
Dr. Steve Sommer goes through a list of just some of the symptoms associated with mitochondrial disease. Considered rare just a couple of years ago, researchers are now finding out that it's fairly common, specially in children. He says one in 500 is afflicted.
"In children it's more common than childhood cancer, it's more common than muscular dystrophy."
Dr. Sommer is participating in the American society of Human Genetics convention being held at the Hawaii Convention Center. His company called Medomics is the first laboratory to offer what he calls a true test for mitochondrial disease.
"That allows us to develop a test that's much more sensitive and much more definitive for mutations or changes in the DNA."
There's no cure for the disease but it can be treated once it's diagnosed. Dr. Sommer says anyone experiencing symptoms should visit a specialist such as a neurologist. And the specialist can get a patient's blood or saliva tested at the Medomics lab in California. Mutations will confirm if the disease is present.
"We look at all the 16 thousand 500 nucleotides in the mitochondrial genome and if there's a mutation anywhere we find it."
