False about hanup's disease
It is a rare inborn error of metabolism with autosomal recessive inheritance. Neutral amino acids, including tryptophan, are not transpoed across the brush border epithelium of the intestine and kidneys, This results in deficiency of synthesis of nicotinamide It causes a photo-induced pellagra-like syndrome. Cutaneous signs precede neurologic manifestations Eczematous, occasionally vesiculobullous eruption noted on the face and extremities in a glove-and-stocking photodistribution. Neurologic symptoms are fully reversible. Administration of nicotinamide and protection from sunlight improves both cutaneous and neurologic manifestations.
Defect in neutral aminoacid transpo
Mental retardation is the common presentation
Most children are asymptomatic
Photosensitivity
JIPMER 2019