He Wang , Wei Qu , Ying Liu , Liang Zhang , En-Hui He , Zhi-Jun Zhu , Li-Ying Sun
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引用次数: 0
Abstract
Background
Glycogen storage disease (GSD) is an inherited metabolic disorder affecting glycogen metabolism. The overall incidence of GSD is estimated to be 1 in every 20,000 to 43,000 newborns. GSD is classified into 12 types based on the enzyme deficiency and the tissues affected. Disorders in glycogen degradation may primarily impact the liver, muscles, or both.
Results
In this case report, we discuss a patient with end-stage liver disease due to GSD IIIa who was treated with liver transplantation. Following liver transplantation, the patient's cirrhosis was cured. Six years post-surgery, the patient developed elevated creatine kinase levels without any obvious cause, along with occasional lower limb weakness after exertion. Muscle biopsy revealed pathological changes consistent with vacuolar myopathy.
Conclusions
Liver transplantation does not fully cure glycogen storage disease type IIIa myopathy, necessitating ongoing postoperative follow-up with regular creatine kinase monitoring and other laboratory assessments.
期刊介绍:
Transplantation Proceedings publishes several different categories of manuscripts, all of which undergo extensive peer review by recognized authorities in the field prior to their acceptance for publication.
The first type of manuscripts consists of sets of papers providing an in-depth expression of the current state of the art in various rapidly developing components of world transplantation biology and medicine. These manuscripts emanate from congresses of the affiliated transplantation societies, from Symposia sponsored by the Societies, as well as special Conferences and Workshops covering related topics.
Transplantation Proceedings also publishes several special sections including publication of Clinical Transplantation Proceedings, being rapid original contributions of preclinical and clinical experiences. These manuscripts undergo review by members of the Editorial Board.
Original basic or clinical science articles, clinical trials and case studies can be submitted to the journal?s open access companion title Transplantation Reports.