NCC Knowledge Nugget Series: Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency ACT Sheet-VLCAD Knowledge Nugget

Video Transcription

Video Summary

This ACMG Knowledge Nugget focuses on newborn screening for VLCAD deficiency. VLCAD deficiency is a genetic condition that affects fat metabolism, leading to symptoms like lethargy and muscle weakness. It can manifest in early infancy, childhood, or adulthood, with varying severity. Management includes frequent meals and avoiding fasting. Screening is crucial as VLCAD deficiency is inherited in an autosomal recessive manner. If a patient screens positive, steps include informing the family, arranging immediate referral to a specialist, and confirming the diagnosis. Early identification through newborn screening can facilitate early treatment and prevention of symptoms. Additional resources are available on the ACMG website for further information.

Keywords

newborn screening

VLCAD deficiency

fat metabolism

genetic condition

autosomal recessive