enzyme deficiency
Inherited condition where reduced enzyme activity disrupts normal metabolic processes detected by screening.
Full Definition
Enzyme deficiency refers to genetic conditions where mutations reduce or eliminate enzyme activity, leading to metabolic disruptions that can be detected through newborn screening. These deficiencies cause substrate accumulation, product deficiency, or both, resulting in characteristic biochemical patterns. Examples include phenylketonuria (PAH deficiency), maple syrup urine disease (branched-chain ketoacid dehydrogenase deficiency), and medium-chain acyl-CoA dehydrogenase deficiency. Early detection allows dietary management or enzyme replacement therapy to prevent serious complications.
Usage
Usage note: Use as a compound noun; avoid 'enzyme defect' in formal clinical contexts.
In Context
- "The screening panel detects multiple enzyme deficiencies through characteristic metabolite patterns." — Laboratory methodology document
- "Confirmatory testing confirmed the suspected enzyme deficiency and guided treatment planning." — Clinical follow-up report