Lesch Nyhan Syndrome is an inborn disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, an enzyme of purine salvage pathway. The enzyme is responsible for recycling purines by converting guanine and hypoxanthine into guanosine monophosphate and inosine monophosphate, respectively. Lack of the enzyme causes an increase in guanine and hypoxanthine, which eventually gets converted into uric acid. HPRT deficiency results in a spectrum of clinical presentations depending on the severity of enzyme deficiency. With an enzyme activity of less than 1.5%, Lesch Nyhan falls towards the severe end of the spectrum. The characteristics defining the disease are hyperuricemia, neurodevelopmental abnormalities with global developmental delay, involuntary movements, and self-injurious behavior. This activity outlines the evaluation and management of Lesch Nyhan syndrome and explains the role of the interprofessional healthcare team in managing patients with this condition.
- Provider:StatPearls, LLC
- Activity Link: https://www.statpearls.com/ArticleLibrary/viewarticle/24197
- Start Date: 2023-09-01 05:00:00
- End Date: 2023-09-01 05:00:00
- Credit Details: AMA PRA Category 1 Credit™️: 1.5 hours
Nursing: 1.5 hours
Pharmacy: 1.5 hours - MOC Credit Details: ABS - 1.5 Point; Credit Type(s): Accredited CME (ABS)
ABOS - 1.5 Point; Credit Type(s): Accredited CME (ABOS)
ABPATH - 1.5 Point; Credit Type(s): Lifelong Learning (ABPATH)
ABA - 1.5 Point; Credit Type(s): Lifelong Learning (ABA)
ABIM - 1.5 Point; Credit Type(s): Medical Knowledge (ABIM)
ABS - 1.5 Point; Credit Type(s): Self-Assessment (ABS)
ABP - 1.5 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, Developmental-Behavioral Pediatrics, General Operative Anesthesia, General Pediatrics, General Surgery, Hospital Medicine, Internal Medicine, Molecular Genetic Pathology, Nephrology, Pediatric Anesthesia, Pediatric Critical Care Medicine, Pediatric Hematology-Oncology, Pediatric Nephrology, Pediatric Neurology, Pediatric Orthopaedic Surgery, Pediatric Rheumatology, Renal/Medical Renal