Educational Content: This article is for informational purposes only and does not constitute medical advice. Always consult a healthcare provider for diagnosis and treatment.
Definition of Defect, enzyme
Medically reviewed by Dr. Otari Nergadze, Neurosurgeon | Updated: January 2026
Defect, enzyme: A disorder resulting from a deficiency (or functional abnormality) of an enzyme. For example, newborns are routinely screened for certain enzyme defects, such as phenylketonuria (PKU) and galactosemia.