Plan to screen all newborns for metabolic disease

Star: KUALA LUMPUR: The Health Ministry hopes to screen all newborn babies for Inborn Errors of Metabolism (IEM) or inherited metabolic diseases.
Deputy Health Minister Datuk Dr Abd Latiff Ahmad said with a small investment many lives could be spared from agony, deaths and costly treatment in the future.
He said the ministry would ask for more budget allocation from the Government to provide the screening after the on-going two-year pilot project on screening of babies for IEM is completed in 2008.
“It only cost RM3 for a child to be screened for the inherited metabolic disease and the small investment could save a lot of lives from agony, deaths and costly treatment in future,” Dr Latiff said at the Metabolic Camp II yesterday.
The pilot project, that started in September, is being carried out at government hospitals in Kuala Lumpur, Putrajaya, Selayang, Alor Star, Penang, Kota Baru, Kuching and Malacca, said geneticist Dr Choy Yew Sing, who is the chief investigator of the pilot project known as Newborn Screening for IEM.
Dr Latiff said it would cost the Government RM1.5mil to screen an estimated 500,000 babies born each year in Malaysia.
“It is a small investment compared with the cost saved in future because with early detection, the right diet and treatment, many can lead normal lives,” he said.
IEM comprises a large class of genetic diseases involving disorders of metabolism such as mitochondrial disease, organic academia, urea cycle defects, glycogen storage disease, lysosomal storage disease and fatty acid oxidation defects.
It is due to defects in genes producing enzymes, which are essential in many biochemical reactions or metabolism in the body.
If untreated, they may cause mental retardation, physical handicap and even death. If both parents carry the same defective gene responsible for one particular IEM, they run 25% risk of giving birth to a child with the particular inborn error of metabolic disease, said Dr Choy.
During a question and answer session, he said the lack of Q10 drug for mitochondria patients was due to difficulty in getting approval for the drug.
“We lack report on the effectiveness of the drug. We are trying to obtain health technology assessment from other countries and also compile our own report,” he said.
He said the drug had been effective on one-third of his patients, however, for another third, there were still some problems while it was not effective at all for the rest.