HARTNUP DISEASE

Course overview

HARTNUP DISEASE IS AN AUTOSOMAL RECESSIVE DISORDER RESULTING IN IMPAIRED FUNCTIONING OF TRANSPORT PROTEIN IN INTESTINES AND KIDNEYS. THIS RESULTS IN WASTING OF NEUTRAL AMINO ACIDS WHICH MANIFESTS AS CUTANEOUS AND NEUROLOGIC CLINICAL SYMPTOMS. THIS ACTIVITY DESCRIBES THE VARIOUS ETIOLOGICAL FACTORS, PATHOPHYSIOLOGY, AND MANAGEMENT OF PATIENTS WITH HARTNUP DISEASE.