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Inborn errors of metabolism (IEM) are a group of rare, inherited genetic disorders in which the body is unable to properly convert food into energy due to defects in specific enzymes or metabolic pathways. These conditions typically result from mutations in genes that code for proteins responsible for breaking down carbohydrates, proteins, or fats. As a result, toxic substances may accumulate, or essential compounds may be deficient, leading to various clinical complications.

IEM is often present in infancy or early childhood, although some forms may appear later in life. Common examples include phenylketonuria (PKU), maple syrup urine disease (MSUD), and galactosemia. Symptoms vary widely but may include poor feeding, vomiting, lethargy, developmental delay, seizures, unusual body odor, or failure to thrive. In severe cases, untreated IEM can lead to organ damage, neurological impairment, or even death.

Diagnosis is commonly achieved through newborn screening programs, blood tests, genetic analysis, and metabolic studies. Early detection is critical to prevent irreversible damage. Management strategies depend on the specific disorder and may involve specialized diets, enzyme replacement therapy, vitamin supplementation, or avoidance of certain nutrients.

With timely intervention and ongoing care, many individuals with IEM can lead relatively healthy lives, although lifelong monitoring is often necessary.