The screening test for inborn errors of metabolism is available to all newborns at NUH. The neonatal team, comprising doctors and nurses, will request parental consent for the newborn to undergo this test.
Initially, infants with these conditions may seem healthy. However, they may develop serious symptoms such as vomiting, drowsiness, seizures, neuro-developmental delays, or in severe cases, death.
Inborn errors of metabolism are a group of inherited diseases. Affected infants are unable to process certain substances found in milk and food due to a deficiency in specific enzymes. This leads to an accumulation of toxic chemicals in the body, causing the aforementioned symptoms.
While each specific inborn error of metabolism is rare, the use of tandem mass spectrometry in screening test allows for the detection of more than 25 different types. The likelihood of an infant being affected by an inborn error of metabolism is approximately 1 in every 4,000 to 5,000 infants.
A small blood sample is taken from the infant’s heel before hospital discharge for the screening test. If results indicate abnormal findings, the infant will be requested to undergo additional tests. In cases where these subsequent results are significantly abnormal, referral to a paediatric metabolic disease specialist is made for further management.
Early detection enables thorough confirmatory testing. Treatment typically involves specialised diets, supplements and regular monitoring.
