title: Hepatocyte transplantation for glycogen storage disease type Ib.
abstract: Glycogen storage disease type I (GSD-I) is a group of autosomal recessive disorders with an incidence of 1 in 100,000. The two major subtypes are GSD-Ia, caused by a deficiency of glucose-6-phosphatase (G6Pase), and GSD-Ib, caused by a deficiency of glucose-6-phosphate transporter (G6PT). We report that a substantial improvement was achieved following several infusions of hepatocytes in a patient with GSD-Ib. Hepatocytes were isolated from the unused cadaveric whole livers of two donors. At the first transplantation, approximately 2 x 10(9) cells (2% of the estimated recipient's total hepatocytes) were infused. Seven days later 1 x 10(9) (1% of liver mass) cryopreserved hepatocytes from the same donor were infused, and an additional 3 x 10(9) (3% of liver mass) cells from the second donor were infused 1 month after the second transplantation. After the hepatocyte transplantation, the patient showed no hypoglycemic symptoms despite the discontinuation of cornstarch meals. Liver biopsies on posttransplantation days 20 and 250 showed a normal level of glucose-6-phosphatase activity in presolubilization assay that was very low before transplantation. This was the first and successful clinical hepatocyte transplantation in Korea. In this study, hepatocyte transplantation allowed a normal diet in a patient with GSD-Ib, with substantial improvement in their quality of life. Hepatocyte transplantation might be an alternative to liver transplantation and dietary therapy in GSD-Ib.
authors.affiliation: Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Kwang-Woong
authors.initials: KW
authors.lastname: Lee
authors.forename: Ji-Hyun
authors.initials: JH
authors.lastname: Lee
authors.forename: Sung Wook
authors.initials: SW
authors.lastname: Shin
authors.forename: Sung Joo
authors.initials: SJ
authors.lastname: Kim
authors.forename: Jae Won
authors.initials: JW
authors.lastname: Joh
authors.forename: Doo-Hoon
authors.initials: DH
authors.lastname: Lee
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Hwa-Young
authors.initials: HY
authors.lastname: Park
authors.forename: Soo-Youn
authors.initials: SY
authors.lastname: Lee
authors.forename: Hwan Hyo
authors.initials: HH
authors.lastname: Lee
authors.forename: Jin Wan
authors.initials: JW
authors.lastname: Park
authors.forename: Shi-Yeon
authors.initials: SY
authors.lastname: Kim
authors.forename: Hee-Hoon
authors.initials: HH
authors.lastname: Yoon
authors.forename: Doo-Hee
authors.initials: DH
authors.lastname: Jung
authors.forename: Yon Ho
authors.initials: YH
authors.lastname: Choe
authors.forename: Suk-Koo
authors.initials: SK
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D002102:Cadaver; D005500:Follow-Up Studies; D005952:Glucose-6-Phosphatase / Q000378:metabolism*; D019298:Glucose-6-Phosphate / Q000172:deficiency / Q000378:metabolism*; D005953:Glycogen Storage Disease Type I / Q000378:metabolism* / Q000473:pathology / Q000628:therapy*; D022781:Hepatocytes / Q000201:enzymology / Q000637:transplantation*; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007723:Korea; D008099:Liver / Q000166:cytology / Q000276:immunology; D008297:Male; D011788:Quality of Life; D014181:Transplantation Immunology / Q000187:drug effects; D019737:Transplants; D016896:Treatment Outcome
chemical_list: D007166:Immunosuppressive Agents; D019298:Glucose-6-Phosphate; D005952:Glucose-6-Phosphatase