title: Living donor liver transplantation for glycogen storage disease type Ib.
abstract: Glycogen storage disease type 1b (GSD-1b) is due to an autosomal recessive inborn error of carbohydrate metabolism caused by defects in glucose-6-phosphatase translocase. Patients with GSD-1b have severe hypoglycemia with several clinical manifestations of hepatomegaly, obesity, a doll-like face, and neutropenia. Liver transplantation has been indicated for severe glucose intolerance. This study retrospectively reviewed 4 children with a diagnosis of GSD-1b who underwent living-donor liver transplantation (LDLT). Between November 2005 and June 2008, 96 children underwent LDLT with overall patient and graft survival of 92.3%. Of these, 4 (4.2%) were indicated for GSD-1b. All patients are doing well with an excellent quality of life because of the stabilization of glucose intolerance, decreased hospital admission, and normalized neutrophil count. LDLT appears to be a feasible option and is associated with a better quality of life for patients with GSD-1b. Long-term observation may be necessary to collect sufficient data to confirm the efficacy of this treatment modality.
authors: Department of Transplant Surgery, National Center for Child Health and Development, Tokyo, Japan. kasahara-m@ncchd.go.jp
authors: Mureo
authors: M
authors: Kasahara
authors: Reiko
authors: R
authors: Horikawa
authors: Seisuke
authors: S
authors: Sakamoto
authors: Takanobu
authors: T
authors: Shigeta
authors: Hideaki
authors: H
authors: Tanaka
authors: Akinari
authors: A
authors: Fukuda
authors: Kiyomi
authors: K
authors: Abe
authors: Keisuke
authors: K
authors: Yoshii
authors: Yasuhiro
authors: Y
authors: Naiki
authors: Rika
authors: R
authors: Kosaki
authors: Atsuko
authors: A
authors: Nakagawa
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000150:complications / Q000401:mortality / Q000601:surgery*; D006085:Graft Survival; D006760:Hospitalization; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology / Q000517:prevention & control; D007223:Infant; D016031:Liver Transplantation / Q000009:adverse effects / Q000401:mortality; D019520:Living Donors; D008297:Male; D011788:Quality of Life; D012189:Retrospective Studies; D013997:Time Factors; D016896:Treatment Outcome