IEM is the short form for Inborn Errors of Metabolism. Metabolic disorders are genetic defects that prevent some essential enzymes in the body from being produced. As a result, there is deficiency of certain essential components, or accumulation of toxic substances in the body. The disorders can lead to serious outcomes including chronic diseases such as mental retardation without appropriate treatment.

Globally, one in every 2,000 newborn babies is diagnosed with orphan diseases including IEM, and in Hong Kong, one in every 4,000 newborns suffers from IEM. Metabolic disorders are often overlooked, as they are rare diseases with indistinct symptoms, resulting in delayed treatment and irreversible damage. In serious cases, patients’ bodily functions deteriorate, leading to disability, or even death.

There are many types of metabolic disorders, and the onset of symptoms and time vary for each disorder. Through  early diagnosis and treatment, some metabolic disorders can be treated through methods such as dietary adjustments and medication, to minimize the impact of the disorders on the child.

Some of the more well-known IEM disorders include mitochondrial defects, mucopolysaccharidoses (MPS) and phenylketonuria (PKU), etc.

Take the first step in guarding your child’s health, and learn more about the “Newborn Metabolic Screening” (link to 3) now.

 

Source: Joshua Hellmann Foundation for Orphan Disease