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

LCHAD ACT Sheet

Pdf Summary

The ACT Sheet by the American College of Medical Genetics and Genomics is a practice resource intended for medical geneticists and clinicians. This document provides guidance on procedures for diagnosing and managing Long-chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency and its differential diagnosis, Mitochondrial Trifunctional Protein (TFP) deficiency. Both disorders are fatty acid oxidation deficiencies that impair long-chain fatty acid breakdown and energy production, particularly during stress or fasting. <br /><br />Immediate steps recommended upon an elevated C16-OH/C18-OH newborn screening result include:<br /><br />1. Inform the family of the findings.<br />2. Assess the clinical status of the newborn for symptoms like poor feeding, lethargy, and vomiting.<br />3. Consult a pediatric metabolic specialist the same day.<br />4. Evaluate the newborn for signs such as hypoglycemia, cardiomyopathy, and arrhythmias, and transport the infant to a hospital if necessary.<br />5. Provide the family with basic information on LCHAD/TFP deficiencies and caution against fasting.<br />6. Report diagnostic outcomes to the newborn screening program.<br /><br />Diagnostic evaluation involves measuring plasma acylcarnitines (C16-OH and C18-OH) and conducting molecular genetic tests to distinguish between LCHAD and TFP deficiencies. Clinically, these conditions may present with severe symptoms such as cardiac insufficiency and hepatomegaly, and may result in high mortality if not treated promptly. Treatment includes avoiding fasting and supplementing with medium-chain triglycerides under specialist guidance.<br /><br />Additionally, the ACT Sheet lists resources for communicating newborn screening results, emergency protocols, and information for families, along with directories for genetics clinics and genetic testing registries. These resources aim to support clinicians in providing informed and effective care. <br /><br />This document is anchored on professional discretion and acknowledges that adherence is voluntary and not an assurance of successful outcomes. Clinicians are encouraged to document their clinical decisions and stay updated with new medical information and intellectual property concerns.

Keywords

LCHAD Deficiency

TFP Deficiency

fatty acid oxidation

newborn screening

pediatric metabolic specialist

hypoglycemia

cardiomyopathy

molecular genetic tests

medium-chain triglycerides

genetics clinics