Inborn Errors of Metabolism (IEMs)

Inborn Errors of Metabolism are genetic disorders in which the body cannot metabolize the food properly. These defects can inhibit the production of some essential enzymes or cause the accumulation of toxic substances in newborns. Infants affected by IEMs can appear normal at birth, and therefore easy to be neglected. If the condition is left untreated, it may result in permanent neurological damages and even death.

About 1 in 4000 newborns in Hong Kong are suffering from IEMs. Although the incidence of IEMs is rare, it can cause detrimental and irreversible complications such as mental retardation, learning difficulties, organ dysfunction, or even mortality. These situations, however, are treatable nowadays with the aid of an effective screening test as early as a day after birth. Therefore, every newborn baby is recommended to join the metabolic screening program during early life to ensure the best possible outcome.