MENKES KINKY HAIR DISEASE

Course overview

MENKES KINKY HAIR DISEASE IS A RARE X-LINKED RECESSIVE PROGRESSIVE MULTISYSTEMIC DISEASE OF COPPER METABOLISM. PATIENTS USUALLY EXHIBIT A SEVERE CLINICAL COURSE WITH DEATH IN EARLY CHILDHOOD. EARLY DIAGNOSIS OF MENKES DISEASE IS CLINICALLY VERY CHALLENGING BECAUSE OF THE SUBTLE CLINICAL FEATURES AND NONSPECIFIC BIOCHEMICAL MARKERS. ACCURATE DIAGNOSIS IS IMPORTANT BOTH FOR PROPER MANAGEMENT TO REDUCE MORBIDITY AND MORTALITY AND ALSO FOR PARENTAL COUNSELING AND PRENATAL DIAGNOSIS. THIS ACTIVITY REVIEWS THE PATHOPHYSIOLOGY, CLINICAL FEATURES, EVALUATION, AND TREATMENT OF MENKES DISEASE; AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN THE MANAGEMENT.