Living donor liver transplantation for glycogen storage disease type Ib

✍ Scribed by Mureo Kasahara; Reiko Horikawa; Seisuke Sakamoto; Takanobu Shigeta; Hideaki Tanaka; Akinari Fukuda; Kiyomi Abe; Keisuke Yoshii; Yasuhiro Naiki; Rika Kosaki; Atsuko Nakagawa

• Publisher: John Wiley and Sons
• Year: 2009
• Tongue: English
• Weight: 80 KB
• Volume: 15
• Category: Article
• ISSN: 1527-6465
• DOI: 10.1002/lt.21929

✦ Synopsis

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.