title: [The Fanconi-Bickel syndrome: one more case].
abstract: The association of de Toni-Debré-Fanconi syndrome with alteration of galactose metabolism and glycogen hepatic storage, before further clarification, is defined as Fanconi-Bickel syndrome. The Authors present a case in which the alterations in galactose metabolism typically do not affect the enzymes responsible for galactosemia. In such patients a recognised enzymatic defect glycogenosis is not involved and glycogen storage in the liver can be a secondary phenomenon, which can increase, differing according to each subject. Liver biopsy to detect storage can be avoided when all the other diagnostic criteria are observed.
authors.affiliation: Clinica Pediatrica II G. Gaslini, Università di Genova.
authors.forename: G
authors.initials: G
authors.lastname: Ruffa
authors.forename: M
authors.initials: M
authors.lastname: Ferrando
authors.forename: P
authors.initials: P
authors.lastname: Sbolgi
authors.forename: G
authors.initials: G
authors.lastname: Bartolozzi
authors.forename: N
authors.initials: N
authors.lastname: Lavia
mesh_terms: D002675:Child, Preschool; D003554:Cystinosis / Q000175:diagnosis* / Q000378:metabolism; D005198:Fanconi Syndrome / Q000175:diagnosis* / Q000378:metabolism; D005690:Galactose / Q000378:metabolism*; D006008:Glycogen Storage Disease / Q000175:diagnosis* / Q000378:metabolism; D006801:Humans; D008112:Liver Glycogen / Q000378:metabolism*; D008297:Male
chemical_list: D008112:Liver Glycogen; D005690:Galactose
vernacular_title: Sindrome di Fanconi-Bickel: ancora un caso.