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NCC Knowledge Nugget Series: MCAD ACT Sheet
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficie ...
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency ACT Sheet
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Pdf Summary
The provided document is an ACT (ACT Sheet) from the American College of Medical Genetics and Genomics (ACMG). It serves as an educational resource for medical geneticists and clinicians, providing guidelines for delivering quality medical services. It is important to note that adherence to the guidelines is voluntary and does not guarantee successful medical outcomes. The document should not be seen as an exhaustive list of procedures and tests, but rather a resource to obtain desired results. In making decisions about specific procedures or tests, clinicians should apply their professional judgment based on the individual patient's circumstances. The document encourages clinicians to document their reasons for using particular procedures or tests, whether they align with the guidelines or not. Clinicians should stay updated with medical and scientific advancements that occur after the date of the document's adoption. Furthermore, they should consider any intellectual property restrictions that may limit certain tests or procedures.<br /><br />The ACT Sheet specifically addresses Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in newborns. MCAD deficiency is a disorder affecting fatty acid oxidation and can lead to the accumulation of fatty acids and toxic by-products due to a deficiency in one of the mitochondrial enzymes involved in fatty acid breakdown. Symptoms may appear in the neonatal period, characterized by decreased caloric intake, poor feeding, vomiting, lethargy, and hypotonia. Immediate actions recommended include informing the family of the newborn screening result, assessing the newborn's clinical status, consulting with a pediatric metabolic specialist, evaluating the newborn for signs of illness, and initiating confirmatory/diagnostic testing and management as advised by the specialist. It is crucial to educate the family about MCAD and its management, emphasizing the importance of avoiding fasting in newborns. The final diagnostic outcome should be reported to the newborn screening program.<br /><br />The document also provides additional resources for communicating newborn screening results, emergency protocols, gene reviews, condition information for families, and referral directories for genetics clinics and genetic testing. These resources can offer further support in diagnosing and managing MCAD deficiency.
Keywords
ACT Sheet
American College of Medical Genetics and Genomics
medical geneticists
clinicians
guidelines
quality medical services
procedures
tests
professional judgment
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
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