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

VLCAD ACT Sheet

Pdf Summary

The document provides an ACT Sheet for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in newborn screening. It outlines immediate actions to be taken upon receiving elevated C14:1 acylcarnitines results, such as informing the family, consulting with a pediatric metabolic specialist, and evaluating the newborn's clinical status. Prompt treatment with IV glucose is recommended if the newborn displays symptoms like poor feeding or lethargy. Diagnostic evaluation includes plasma acylcarnitines testing and molecular genetic testing for confirmation. VLCAD deficiency can lead to severe complications if not treated promptly, with symptoms ranging from cardiomyopathy to hypoketotic hypoglycemia. Treatment involves avoiding fasting and supplementation with medium-chain triglycerides. The document emphasizes the importance of communicating screening results effectively, following emergency protocols, and providing families with essential information. It also provides resources for further information and referrals to genetics clinics and genetic testing registries. The American College of Medical Genetics and Genomics encourages clinicians to apply their judgment in using this practice resource, considering individual patient circumstances and staying informed about the latest medical developments.

Keywords

VLCAD deficiency

Newborn screening

Elevated C14:1 acylcarnitines

Pediatric metabolic specialist

IV glucose treatment

Plasma acylcarnitines testing

Molecular genetic testing

Cardiomyopathy

Hypoketotic hypoglycemia

Medium-chain triglycerides