[The Fanconi-Bickel syndrome: one more case].
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.
Ruffa
G
G
Clinica Pediatrica II G. Gaslini, Università di Genova.
Ferrando
M
M
Sbolgi
P
P
Bartolozzi
G
G
Lavia
N
N
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
D008112:Liver Glycogen; D005690:Galactose
Sindrome di Fanconi-Bickel: ancora un caso.