title: [Clinical picture of Hartnup disease. Without urine amino acids or any other identified metabolic disorder (a new entity)].
abstract: 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.
authors.affiliation: Faculdade de Medicina, UFMG.
authors.forename: E R
authors.initials: ER
authors.lastname: Da Gloria
authors.forename: J G
authors.initials: JG
authors.lastname: Assunção
authors.forename: M A
authors.initials: MA
authors.lastname: Costa
mesh_terms: D002648:Child; D006250:Hartnup Disease / Q000175:diagnosis* / Q000378:metabolism*; D006801:Humans; D008297:Male
vernacular_title: Quadro clínico de doença de Hartnup. Sem aminoaciduria ou outra alteração metabólica identificada (entidade Nova).