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Liver cirrhosis treated by living donor liver transplantation in a patient with AGL mutation c.2607-2610delATTC and c.1672dupA.

Abstract
Glycogen storage disease type III (GSD III) is an inherited disorder characterized by the accumulation of abnormal glycogen in the liver. Hepatic manifestations were considered as improving with age; however, patients live longer and liver cirrhosis is being recognized. We report a patient of GSD IIIa with liver cirrhosis, which was treated successfully by living donor liver transplantation. The patient proved to be a compound heterozygote for a novel small deletion c.2607-2610delATTC and a known duplication c.1672dupA in AGL, a gene coding glycogen debranching enzyme responsible for GSD III. Molecular diagnosis helped clinical decision-making.
AuthorsYuichi Kondo, Hiromi Usui, Mika Ishige-Wada, Toshio Murase, Misao Owada, Minoru Okubo
JournalClinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 424 Pg. 19-21 (Sep 23 2013) ISSN: 1873-3492 [Electronic] Netherlands
PMID23688858 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2013 Elsevier B.V. All rights reserved.
Chemical References
  • alpha-Glucosidases
Topics
  • Glycogen Storage Disease Type III (complications, diagnosis, genetics, therapy)
  • Heterozygote
  • Humans
  • Liver Cirrhosis (complications, diagnosis, genetics, therapy)
  • Liver Transplantation
  • Living Donors
  • Male
  • Mutation
  • Treatment Outcome
  • Young Adult
  • alpha-Glucosidases (deficiency, genetics)

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