[Clinical picture of Hartnup disease. Without urine amino acids or any other identified metabolic disorder (a new entity)].
Harthnup disease clinical picture without aminoaciduria or other identified metabolic disturb (New entity?). The authors present a patient with clinical picture superposed to the Hartnup disease's, a rare, autosomic and recessive metabolic disturbance, characterized by typical aminoaciduria consequent to tryptophan and other neutral aminoacids defective transport by jejunal mucous membrane and renal tubules, clinically expressed by photosensitive pellagra-like dermatitis, mental retardation and intermittent cerebellar ataxia. The laboratorial results did not confirm Hartnup aminoaciduria nor other identified metabolic change that justify his clinical manifestations.
Da Gloria
E R
ER
Faculdade de Medicina, UFMG.
Assunção
J G
JG
Costa
M A
MA
D002648:Child; D006250:Hartnup Disease / Q000175:diagnosis* / Q000378:metabolism*; D006801:Humans; D008297:Male
Quadro clínico de doença de Hartnup. Sem aminoaciduria ou outra alteração metabólica identificada (entidade Nova).