Which congenital disorders can result from inborn errors of metabolism?

Inborn errors of metabolism are a group of rare, inherited genetic disorders that disrupt the body's ability to process nutrients, typically due to the absence or reduced activity of specific enzymes or transport proteins. While the term encompasses thousands of potential metabolic defects, they are often categorized by the substances they affect, such as amino acids, lipids, carbohydrates, and nucleic acids.123

Specific examples of congenital disorders resulting from these metabolic errors include:

• Phenylketonuria (PKU): A defect in the enzyme phenylalanine hydroxylase that leads to the toxic accumulation of the amino acid phenylalanine, which can cause intellectual disability if untreated.12
• Alkaptonuria: A disorder identified by Sir Archibald Garrod as an early example of an inborn error of metabolism.1
• Albinism: Also categorized by Garrod as an inherited metabolic disorder.1
• Tay-Sachs disease: A metabolic disorder for which prenatal screening is often conducted in specific populations.3

These conditions are generally hereditary and often follow an autosomal recessive inheritance pattern. Early detection through newborn screening is critical, as many of these disorders can lead to severe neurological damage or developmental delays if not managed through specialized diets or other medical interventions.1423