NCC Knowledge Nugget Series: Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD Deficiency) ACT Sheet-LCHAD Knowledge Nugget

Video Transcription

Video Summary

This ACMG session discusses newborn screening for long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and related mitochondrial trifunctional protein (TFP) deficiency. The session covers genetic background, clinical features, and necessary provider actions upon a positive screen result, such as immediate family contact, clinical evaluation, and referral to pediatric metabolic specialists. Management includes regular meals and IV glucose if needed. Act Sheets on the ACMG website provide resources and next steps for various conditions detected via newborn screening. CMEs are available upon quiz completion.

Keywords

newborn screening

LCHAD deficiency

TFP deficiency

clinical management

ACMG resources