REFSUM DISEASE

Course overview

REFSUM DISEASE IS A RARE AUTOSOMAL RECESSIVE DISEASE FROM THE PEROXISOMAL BIOGENESIS SPECTRUM OF DISORDERS. PEROXISOMES ARE MULTIPLE MEMBRANE-BOUND INTRACELLULAR ORGANELLES INVOLVED IN CATALYZING VARIOUS FUNCTIONS IN CELLULAR METABOLISM AND BIOSYNTHESIS. THE ETIOLOGY FOR REFSUM DISEASE PRIMARILY DEPENDS ON THE PRESENCE OF ABERRANT GENES FOR SPECIFIC ENZYMES. THIS ACTIVITY DESCRIBES THE EVALUATION AND MANAGEMENT OF REFSUM DISEASE. IT HIGHLIGHTS THE ROLE OF THE HEALTHCARE PROFESSIONALS IN ACCURATELY EVALUATING AND MANAGING REFSUM DISEASE AND PROVIDING SURVEILLANCE TO IMPROVING PATIENT CARE AND THEIR OVERALL WELL-BEING.