This continuing medical education activity reviews the diagnosis and management of Lesch-Nyhan syndrome, an X-linked disorder of purine metabolism caused by hypoxanthine-guanine phosphoribosyltransferase deficiency. The condition is clinically significant because affected patients may develop hyperuricemia from birth, nephrolithiasis, dystonia, developmental delay, self-injurious behavior, megaloblastic anemia, and respiratory complications that contribute to reduced life expectancy. The practice gap addressed in this activity is delayed recognition and inconsistent interdisciplinary treatment, particularly when early neurological findings are misattributed to cerebral palsy, or hyperuricemia is treated without coordinated behavioral, dental, neurological, and renal prevention strategies. This activity addresses that gap by reviewing key biochemical, enzymatic, molecular, and clinical findings and outlining evidence-informed supportive care. Participants are expected to improve diagnostic accuracy, select appropriate urate-lowering and symptomatic therapies, prevent renal and tissue complications, and strengthen interprofessional care planning.
Credit & MOC Details
Credit information is provided by the course provider. We recommend confirming credit eligibility with the provider or your licensing board before starting the activity.
Credit types
MOC types
FDA REMS
Qualifies for MIPS
Target Specialties
Relevant across 11 specialties.
Address:
- 4905 34th St S
Specialties served/covered
- Addiction Medicine
- Adolescent Medicine
- Advanced Heart Failure & Transplant Cardiology
- Allergy & Clinical Immunology
- Anatomic & Clinical Pathology
- Blood Banking & Transfusion Medicine
- Brain Injury Rehabilitation
- Breast Imaging
- Cardiac Anesthesia
- Cardiothoracic Surgery
- Cardiovascular Disease
- Chemical Pathology
- Clinical Cardiac Electrophysiology
- Clinical Informatics
- Critical Care Medicine
- Cytopathology
- Dermatopathology
- Diagnostic Radiology
- Endocrinology, Diabetes & Metabolism
- Facial Plastic & Reconstructive Surgery
- Foot & Ankle Surgery
- Forensic Pathology
- Gastroenterology
- General Internal Medicine
- General Operative Anesthesia
- General Otolaryngology
- General Pediatrics
- General Surgery
- Geriatric Medicine
- Head & Neck Surgery
- Hematology
- Hematopathology
- Hospice & Palliative Medicine
- Hospital Medicine
- Interventional Cardiology
- Interventional Radiology
- Laryngology
- Medical Leadership & Administration
- Medical Microbiology
- Medical Oncology
- Medical Toxicology
- Metabolic & Bariatric Surgery
- Molecular Genetic Pathology
- Musculoskeletal Oncology
- Neonatal-Perinatal Medicine
- Nephrology
- Neuro Anesthesia
- Neurocritical Care
- Neurodevelopmental Disabilities
- Neurological & Spinal Cord Injury Rehab
- Neuromuscular Medicine
- Neuropathology
- Neuroradiology
- Nuclear Medicine
- Obstetric Anesthesia
- Obstetrics & Gynecology
- Ophthalmology
- Orthopaedic Sports Medicine
- Orthopaedic Surgery
- Orthopaedic Trauma
- Otology & Neurotology
- Pain Medicine
- Patient Safety & Quality Improvement
- Pediatric Anesthesia
- Pediatric Cardiology
- Pediatric Critical Care Medicine
- Pediatric Emergency Medicine
- Pediatric Gastroenterology
- Pediatric Hematology-Oncology
- Pediatric Infectious Diseases
- Pediatric Neurology
- Pediatric Orthopaedic Surgery
- Pediatric Otolaryngology
- Pediatric Pathology
- Pediatric Radiology
- Pediatric Rehabilitation Medicine
- Pediatric Surgery
- Pediatric Transplant Hepatology
- Physical Medicine & Rehabilitation
- Practice Management & Ethics
- Primary Care Sports Medicine
- Pulmonary Disease
- Regional Anesthesia & Acute Pain
- Rheumatology
- Rhinology
- Shoulder & Elbow Surgery
- Sleep Medicine
- Spine Surgery
- Surgery of the Hand & Upper Extremity
- Surgical Critical Care
- Surgical Oncology
- Thoracic Anesthesia
- Thoracic Surgery
- Transplant Hepatology
- Transplant Surgery
- Trauma Surgery
- Urology
- Vascular Neurology
- Vascular Surgery
- Anesthesiology
- Cardio-Vascular
- Cross-Specialty
- Emergency & Critical Care
- ENT & Head Neck
- GI & Liver
- Infectious Disease
- Internal Medicine
- Medical Subspecialties
- Neurology
- Ob/Gyn
- Oncology & Hematology
- Orthopedics
- Pain & Palliative
- Pathology & Lab
- Pediatrics
- Primary care
- Radiology
- Rehabilitation
- Sports & Exercise Medicine
- Surgery
- Urology
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