metabolic disorder
An inherited condition affecting the body's ability to process specific nutrients or produce essential enzymes, detectable through newborn screening.
Full Definition
Metabolic disorders encompass a broad category of genetic conditions that impair normal biochemical processes in the body, often involving deficiencies in enzymes required for breaking down amino acids, fatty acids, or carbohydrates. These conditions can lead to toxic accumulation of substrates or deficiency of essential products, potentially causing developmental delays, organ damage, or life-threatening crises if untreated. Early detection through newborn screening allows for prompt dietary management, enzyme replacement, or other interventions that can prevent or minimize adverse outcomes.
Usage
Usage note: Use 'metabolic disorder' rather than 'metabolic disease' in screening contexts to avoid implying confirmed diagnosis before confirmatory testing.
In Context
- "The newborn screening program detected 15 cases of metabolic disorders requiring immediate dietary intervention." — Annual screening report
- "Parents should understand that a positive screen for metabolic disorder requires confirmatory testing before diagnosis." — Patient education material