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.
|
Authors | Yuichi Kondo, Hiromi Usui, Mika Ishige-Wada, Toshio Murase, Misao Owada, Minoru Okubo |
Journal | Clinica chimica acta; international journal of clinical chemistry
(Clin Chim Acta)
Vol. 424
Pg. 19-21
(Sep 23 2013)
ISSN: 1873-3492 [Electronic] Netherlands |
PMID | 23688858
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
|
Copyright | Copyright © 2013 Elsevier B.V. All rights reserved. |
Chemical References |
|
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)
|