title: Liver transplantation for type Ib glycogenosis with reversal of cyclic neutropenia.
abstract: We describe a case of glycogen storage disease type Ib in 32-year old male patient with poor metabolic control in spite of medical and nutritional management and the use of recombinant granulocyte stimulating factor. Because of this, liver transplantation was considered as a definitive treatment. We comment on the metabolic results of liver transplantation performed, with reversal of hypoglycemia, hyperuricemia, hypertriglyceridemia and cyclic neutropenia, all of which persist 4 years post-transplant. In view of this case, we believe that liver transplantation is a feasible option to consider in patients with type Ib glycogenosis as a definitive therapeutic procedure.
authors.affiliation: Servicio de Endocrinologia, Hospital La Paz, Madrid, Spain.
authors.lastname: Martinez-Olmos MA
authors.forename: A
authors.initials: A
authors.lastname: López-Sanromán
authors.forename: P
authors.initials: P
authors.lastname: Martín-Vaquero
authors.forename: E
authors.initials: E
authors.lastname: Molina-Pérez
authors.forename: R
authors.initials: R
authors.lastname: Bárcena
authors.forename: E
authors.initials: E
authors.lastname: Vicente
authors.lastname: Candela A
authors.forename: L F
authors.initials: LF
authors.lastname: Pallardo-Sánchez
mesh_terms: D000328:Adult; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000601:surgery / Q000628:therapy*; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D016031:Liver Transplantation; D008297:Male; D009503:Neutropenia; D016896:Treatment Outcome
chemical_list: D016179:Granulocyte Colony-Stimulating Factor