A team of Indian researchers has developed a neonatal test to measure the risk of adrenoleukodystrophy. The study was published in the journal Clinica Chimica Acta and explains how the procedure works. Adrenoleukodystrophy is a genetic disease caused by mutations in the ABCD1 gene.
The malfunction causes the accumulation of fat molecules known as "very long chain fatty acids". Accumulations destroy myelin, the substance that protects nerve cells, and damages the adrenal glands.
The diagnosis of adrenoleukodystrophy starts from the observation of symptoms. After that, we proceed with a blood test that determines the levels of fatty acids and the severity of the disease. Usually the tests identify the C26: 0, C24: 0 and C22: 0 fatty acids. Furthermore, one can also look for molecules called LPCs, which are formed due to accumulations. Both methods are too slow for widespread screening.
A team of researchers from the National Institute of Mental Health and Neurosciences in Bengaluru has created a new neonatal test. The new screening method is faster and more efficient, completely non-invasive. Just a few drops of dried blood are enough to tell whether the child is at risk or not. To confirm its reliability, the researchers tested the test on 28 samples of sick children and 282 of healthy people.
They also compared the results with those obtained from previous tests. The method has proved effective and reliable. The authors of the study hope that the test will therefore be used on all high-risk infants to ensure early diagnosis.