766 Prolonged survival of hepatocytes transplanted for glycogen storage disease type 1b
Wednesday November 18, 2015 from 11:00 to 12:30
Room 111-112

Kyo Won Lee, Korea


Department of surgery, transplantation division

Samsung medical center


Prolonged survival of hepatocytes transplanted for glycogen storage disease type 1b

Sanghoon Lee1, Ji-Hyun Lee2, Hey-Jung Park2, Young-A Kim2, Mi-Na Park2, Suk-Koo Lee1.

1Department of Surgery, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Korea; 2Stem Cell and Regenerative Medicine Center, Research Institute for Future Medicine, Samsung Medical Center, Seoul, Korea

Glycogen storage disease type I (GSD-I) is a group of autosomal recessive disorders with an incidence of 1 in 100,000. Subtypes GSD-Ib is caused by a deficiency of glucose-6-phosphate transporter (G6PT). We have previously reported that a substantial improvement was achieved following several infusions of hepatocytes in a patient with GSD-Ib and herein report the long-term survival transplanted hepatocytes observed in this patient. Hepatocytes were isolated from the unused cadaveric whole livers of two donors. The patient was an 18 year old male diagnosed with GSD-Ib. He was transplanted three times with approximately 6 x 10^9 cells (6% of the estimated recipient's total hepatocytes) from two braindead donors during a 5 week period. The patient was weaned off cornstarch following hepatocyte transplant and engaged in regular diet. He remained normoglycemic without the need for cornstarch meals. Lactic acid and uric acid levels remained elevated, although there was a downward trend during the latter months of follow-up. The patient had approximately 15 cm linear growth and gained 10 kg. The patient received living-donor liver transplantation from his father 38 months after hepatocyte transplant due to multiple hepatic adenomas. Explant liver biopsies at 38 months posttransplant showed sustained normal G6Pase activity in presonification enzyme assay and normalization of liver glycogen content. Microsatellite analysis revealed donor-specific 147- and 156-base D16S539 alleles in the explant liver. In this study, hepatocytes transplanted in a patient with GSD-Ib was shown to have successfully repopulated in the native liver and survived for 38 months in a functional status, with substantial improvement in the patient’s quality of life. 

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