VLCADD
Pronunciation: V-L-cad
Also written as: VLCADD — very long-chain acyl-CoA dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase deficiency, a fatty acid oxidation disorder with variable clinical severity.
Full Definition
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a fatty acid oxidation disorder that impairs the breakdown of long-chain fatty acids. Clinical presentation varies from severe early-onset cardiomyopathy and liver dysfunction to milder late-onset exercise intolerance and rhabdomyolysis. Newborn screening detects elevated C14:1 acylcarnitine, though some cases may present normal screening results, highlighting the importance of clinical vigilance and family history assessment.
Usage
Usage note: Specify chain length when discussing different acyl-CoA dehydrogenase deficiencies.
In Context
- "VLCADD screening showed borderline C14:1 elevation requiring molecular confirmation." — Genetics consultation
- "The cardiologist should be aware of the VLCADD diagnosis given the risk of cardiomyopathy." — Specialty referral