Ornithine transcarbamylase deficiency (OTCD) is the most prevalent genetic disorder within urea cycle disorders, characterized by X-linked inheritance and variable phenotypic expression. Homozygous males with severe neonatal onset present shortly after birth with hyperammonemia, while late-onset cases may display mild neurocognitive symptoms. The severity of OTCD ranges from potentially lethal to enduring neurocognitive deficits. Interdisciplinary healthcare management involving clinical providers, nurses, pharmacists, and dieticians significantly enhances patient outcomes. Although genetic testing is often confirmatory, recent challenges in diagnosis highlight the importance of clinical and biochemical suspicion.This activity reviews the comprehensive pathophysiology of OTCD, clinical presentation, and diagnostic evaluation, emphasizing the critical role of a coordinated interprofessional approach in optimizing clinical outcomes and reducing associated morbidity and mortality.
- Provider:StatPearls, LLC
- Activity Link: https://www.statpearls.com/ArticleLibrary/viewarticle/26336
- 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, Ambulatory/Outpatient, Chemical Pathology, Critical Care Medicine, Developmental-Behavioral Pediatrics, General Operative Anesthesia, General Pediatrics, General Surgery, Hospital Medicine, Internal Medicine, Medical Toxicology, Molecular Genetic Pathology, Neonatal-Perinatal Medicine, Nephrology, Neurocritical Care, Neurodevelopmental Disabilities, Pediatric Anesthesia, Pediatric Critical Care Medicine, Pediatric Emergency Medicine, Pediatric Nephrology, Pediatric Neurology, Pulmonary Disease