About Metabolic Disorders

Metabolism is a set of chemical reaction processes in our body to maintain vital life activities, like immunity, body growth, and brain development. Examples of metabolism include digestion of food to release energy, and transport of substances into and between cells. The chemical reactions of metabolism are facilitated by enzymes, which act as catalysts to regulate and quicken the reactions.

Newborn babies with inherited metabolic disorders (also called "inborn errors of metabolism") lack certain enzymes to maintain normal metabolic functions, resulting in a build-up of toxic substances or deficiency of critical substances. Although metabolic disorders are rare, if left untreated, they can cause serious developmental issues and lifelong complications, such as intellectual disability, physical disability and in some instances, death.

Unfortunately, newborn babies with metabolic disorders may not show any sign or symptom at birth. Even when present, the signs or symptoms may be subtle or easy to mistake for other more common neonatal diseases. Early diagnosis and follow-up management of the detected metabolic condition can make a huge difference between lifelong impairment and normal development for the affected baby. As parents, you can unknowingly pass to your child the gene for a certain disorder as a carrier, even if everyone in your family is healthy. Going through the screening can help to confirm your newborn metabolic health status.