Scientists nvestigating the mutation behind a disorder that makes milk lethal to infants discovered two new gene mutations that cause the disease among Filipinos.
Galactosemia is caused by mutation in the gene that controls the body’s capacity to metabolize galactose, a simple sugar chiefly found in dairy products such as milk. Due to inability of the body to metabolize galactose, intake of galactose-rich food may result to cataract, liver disease, mental retardation, and death.
The group of scientists at the at the University of the Philippines Manila (UPM) explained that while galactosemia occurs in all ethnic groups worldwide, it is believed that gene mutations for the disorder differ from one group to another. In the Philippines, where about one in every 91,380 newborn infants is born with the disease, the study is the first one to analyze the gene mutation among Filipino galactosemia sufferers.
Among the five recorded Filipino galactosemia patients from 1996 to 2011, the team of UPM scientists found four gene mutations, which are not found in other cases worldwide. Of which, two of the gene mutations have never been described before. The scientists also noted that European gene mutation for galactosemia was not present among the cases they studied.
Scientists discussed that the discovery of the unique gene mutations in Filipino galactosemia patients emphasized the potential of use of mutational analysis as confirmatory diagnostic testing for newborns who were tested positive in the newborn screening (It is one of the congenital diseases that the Philippine Universal Newborn Screening can currently diagnose). Mutational testing will help determine specific gene mutation within the family, and will be useful with testing persons who may be carriers of genes.
Because galactosemia has no cure and entails a lifetime diet galactose-free foods, researchers stressed the importance of early detection, proper medical interventions and genetic counseling of patients and their families. While the disease cannot be prevented, severe complications and deaths could be avoided if newborns will be tested as soon as possible.
REFERENCE: Estrada SC, Canson DM, Silao CL (2013). Mutational analysis of the GALT gene in Filipino patients. Kobe Journal of Medical Sciences, Aug 9;59(3):E106-11. Retrieved from http://www.med.kobe-u.ac.jp/journal/contents/59/E106.pdf