Development of liver disease despite mannose treatment in two patients with CDG-Ib.
We report here the 6- and 2-year follow-up of two patients diagnosed at 2 months of age with CDG-Ib who were treated with mannose, with digestive symptoms, liver involvement and hyperinsulinemic hypoglycaemia. Both developed liver fibrosis while general condition improved and other symptoms disappeared.
Mention
K
K
Department of Paediatrics and Reference Centre for Metabolism, AP-HP, Necker Enfants Malades Hospital, 149 Rue de Sèvres, Paris Cedex, France.
Lacaille
F
F
Valayannopoulos
V
V
Romano
S
S
Kuster
A
A
Cretz
M
M
Zaidan
H
H
Galmiche
L
L
Jaubert
F
F
de Keyzer
Y
Y
Seta
N
N
de Lonlay
P
P
D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications* / Q000188:drug therapy* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006031:Glycosylation; D006801:Humans; D008099:Liver / Q000473:pathology; D008107:Liver Diseases / Q000209:etiology* / Q000473:pathology; D008358:Mannose / Q000627:therapeutic use*; D017211:Treatment Failure
D008358:Mannose