Aussie researchers find cure for rare, fatal infant brain disease
Xinhua, September 4, 2015 Adjust font size:
Australian researchers have found a cure for a rare brain disease, which causes death in infants.
No child had ever survived Molybdenum cofactor deficiency (MoCD) , until doctors from Monash Health in Melbourne teamed up with a German laboratory.
The Melbourne researchers found a compound being tested on animals in Germany could be employed to treat the type A variant of the disease.
MoCD is an incredibly rare condition, affecting one in 100,000 to 200,000 newborn babies.
The condition results in the disintegration of brain tissue due to an enzyme deficiency, which eventually leads to the build-up of toxic levels of sulphite in the body.
The first infant given the compound, known as "Baby Z," had her sulphite levels return to normal and survived, albeit with severe disabilities.
After the encouraging results, the group contacted 16 babies diagnosed with MoCD from 2008 to 2011, and eight could be further treated due to possessing type A.
Three of these eight type A patients, who were treated right from birth, remain seizure free and have shown near normal brain development.
Neonatologist and Monash University researcher Dr Flora Wong told News Corp on Friday that the results of the program, published in medical journal Lancet, would foster awareness about the disease.
"It's a rare disease and diagnosis is difficult, so we suspect there are a lot of kids who are underdiagnosed just because people don't think of this rare disease," Wong said.
"I think it's going to be a long education process to get all clinicians thinking about it, to know that a treatment is actually available.
"It's important to start treatment as soon as possible, and then work out whether it's type A or B later, because that can take another few days."
The Melbourne doctors hailed Baby Z as the "heroine" for developing the cure.
"Being the first patient in the world, we had to go through a lot more hurdles than the others," Wong said.
"Without her, all these other kids would not have benefited from it." Endi