VLCAD deficiency
Pronunciation: VEE-el-cad
Also written as: VLCAD — Very Long-Chain Acyl-CoA Dehydrogenase
Very long-chain acyl-CoA dehydrogenase deficiency, a fatty acid oxidation disorder.
Full Definition
A genetic disorder affecting the body's ability to break down very long-chain fatty acids for energy, particularly during periods of fasting or illness. VLCAD deficiency can present with various phenotypes ranging from severe cardiac and hepatic involvement in infancy to milder muscle-related symptoms in adulthood. Newborn screening detects this condition through elevated acylcarnitine species, specifically C14:1 carnitine. Early diagnosis and management with frequent feeding and avoidance of fasting can prevent life-threatening metabolic crises.
Usage
Usage note: VLCAD is always capitalized as acronym; spell out on first mention.
In Context
- "The elevated C14:1 carnitine suggested possible VLCAD deficiency requiring enzyme analysis." — Laboratory interpretation guide
- "VLCAD deficiency management includes avoiding prolonged fasting and emergency protocols for illness." — Treatment guidelines