Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare autosomal recessive disorder characterized by mitochondrial fatty acid β-oxidation impairment, leading to severe metabolic consequences. The inability to provide energy to tissues during glycogen depletion results in hypoketotic hypoglycemia, the hallmark presentation in young children. Additionally, MCADD may contribute to sudden infant death syndrome cases. While most individuals are asymptomatic at birth, the risk of morbidity and mortality is high during the initial episode. Newborn screening has significantly improved outcomes by preventing severe metabolic crises. However, there is currently no definitive treatment for MCADD, and management primarily involves dietary adjustments and emergency protocols during acute illness or stress.Clinicians must be proficient in identifying and managing MCADD to improve patient outcomes. Early diagnosis is critical, as it can dramatically improve prognosis and reduce medical care costs. Newborn screening via tandem mass spectrometry measures medium-chain acylcarnitines, aiding in early detection. Several tests can be used for diagnostic confirmation. Clinical management requires dietary adjustments and emergency response protocols during acute illness or stress. This activity for healthcare professionals aims to enhance learners’ competence in selecting appropriate diagnostic tests, managing MCADD, and fostering effective interprofessional teamwork to improve outcomes.
- Provider:StatPearls, LLC
- Activity Link: https://www.statpearls.com/ArticleLibrary/viewarticle/24897
- Start Date: 2023-09-01 05:00:00
- End Date: 2023-09-01 05:00:00
- Credit Details: IPCE Credits: 1.0 hours
AMA PRA Category 1 Credit™️: 1.0 hours
Nursing: 1.0 hours
Pharmacy: 1.0 hours - MOC Credit Details: ABS - 1.0 Point; Credit Type(s): Accredited CME (ABS)
ABPATH - 1.0 Point; Credit Type(s): Lifelong Learning (ABPATH)
ABA - 1.0 Point; Credit Type(s): Lifelong Learning (ABA)
ABIM - 1.0 Point; Credit Type(s): Medical Knowledge (ABIM)
ABS - 1.0 Point; Credit Type(s): Self-Assessment (ABS)
ABP - 1.0 Point; Credit Type(s): Lifelong Learning and Self-Assessment (ABP) - Commercial Support: No
- Activity Type: Enduring Material
- CME Finder Type: Online Learning
- Fee to Participate: Variable
- Measured Outcome: Learner Knowledge, Learner/Team Competence
- Provider Ship: Directly Provided
- Registration: Open to all
- Specialty: Adolescent Medicine, Chemical Pathology, Critical Care Medicine, General Operative Anesthesia, General Pediatrics, General Surgery, Hospital Medicine, Internal Medicine, Molecular Genetic Pathology, Neonatal-Perinatal Medicine, Neurocritical Care, Pediatric Anesthesia, Pediatric Cardiology, Pediatric Critical Care Medicine, Pediatric Emergency Medicine