Phenylketonuria (PKU) is an inborn error of metabolism (IEM) most often caused by missense mutations in the gene encoding phenylalanine hydroxylase (PAH), which catalyzes the hydroxylation of phenylalanine (Phe) to generate tyrosine (Tyr). PKU belongs to a class of aminoacidopathies termed toxic accumulation IEMs, in which the accumulation of an amino acid or its metabolite is toxic. Elevated blood Phe levels and decreased Tyr levels characterize PKU. Newborns with PKU can appear normal at birth with the first signs appearing after several months. These signs can include musty odor from skin and urine, fair skin, eczema, seizures, tremors, and hyperactivity. This activity examines the presentation, evaluation, and management of phenylketonuria and stresses the role of an interprofessional team approach to the care of affected patients.
- Provider:StatPearls, LLC
- Activity Link: https://www.statpearls.com/ArticleLibrary/viewarticle/27120
- 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)
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, Developmental-Behavioral Pediatrics, Endocrinology, Diabetes, and Metabolism, General Pediatrics, General Surgery, Hospital Medicine, Internal Medicine, Molecular Genetic Pathology, Neonatal-Perinatal Medicine, Neurodevelopmental Disabilities, Pediatric Anesthesia, Pediatric Endocrinology, Pediatric Neurology