A small number of newborn babies (around 1 in 4,000) may suffer from a condition known as "inborn errors of metabolism". Metabolic diseases are caused by faulty genes which result in a lack of a particular enzyme, thereby hindering metabolism. The effects include a lack of essential substances for the body or the accumulation of toxic substances. If these diseases are not treated early, they can lead to serious consequences, including developmental problems during growth, learning difficulties, intellectual disability, and in severe cases, permanent physical disability or even death.
患病的初生嬰兒大多在出生時沒有明顯病徵，而這些病徵很多時都是難以發現或容易被誤以為是其他嬰兒疾病。當中包括食慾不振、嘔吐、肌肉無力、昏睡、發展遲緩，甚至乎出現癲癇或猝死情況。若能及早被發現和治療，可以避免對嬰兒的健康及發展帶來嚴重及長期的影響。
In the present era, metabolic disease screening methods are mainly divided into two types: blood or urine screening. The difference between the two lies in the number of metabolic diseases detected and their invasiveness. Blood screening detects about 30 metabolic diseases, including amino acid disorders, fatty acid oxidation disorders, and organic acid disorders. However, metabolic diseases are numerous, and not all are included in the screening. The method is simple: a few drops of blood are collected from a heel prick on the baby's foot onto filter paper for testing. Generally, infants need to have been feeding for at least 1 day and blood should be drawn between birth and 7 days old. The results can be known in just a few days. Urine screening, on the other hand, uses different screening methods.
陳欣永兒科專科醫生
