1. (noun) any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism

• congenital disease
• genetic abnormality
• genetic defect
• genetic disease
• genetic disorder
• hereditary condition
• hereditary disease
• inherited disease
• inherited disorder
• metabolic disorder

1. (noun) any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism

• galactosemia
• lysinemia
• niemann-pick disease
• phenylketonuria
• pku