Hartnup disease
Incidence
Rare. AR inheritance. It is a transport defect of neutral aminoacids. 1:18.000 incidence in Massachusetts.
Clinical Characteristics
Photosensitive dermatitis, intermittent cerebellar ataxia, mental disturbances, renal aminoaciduria increased fecal aminoacids. Sx are seen in pts. with lowest aminoacid plasma levels. The disease is seen mainly in malnourished children. Sx. tend to improve with age. The dermatitis resemble pellagra. Cerebral Sx. include personality changes, psychosis, migraine-like headaches, photophobia, intermittent attacks of ataxia or dystonia, changes in hair texture.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
GC/MS in urine for aminoacids and indolic substances in the presence of normal serum pattern is diagnostic for Hartnup disease.