A case of glycogen storage disease type Ⅰa with gout as the first manifestation.
10.3724/zdxbyxb-2022-0530
- Author:
Lingying DAN
1
;
Xiaoxiao SONG
2
;
Hanxiao YU
3
Author Information
1. Department of Endocrinology, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China. 451579221@qq.com.
2. Department of Endocrinology, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China. xsong103@zju.edu.cn.
3. Clinical Research Center, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China.
- Publication Type:Journal Article
- Keywords:
Case report;
Gene mutation;
Glucose-6-phosphatase catalytic subunit;
Glycogen storage disease type Ⅰa;
Gout
- MeSH:
Male;
Humans;
Young Adult;
Adult;
Glycogen Storage Disease Type I/genetics*;
Gout/genetics*;
Mutation;
Lipids
- From:
Journal of Zhejiang University. Medical sciences
2023;52(2):230-236
- CountryChina
- Language:English
-
Abstract:
A 24-year-old male was admitted due to recurrent redness, swelling, fever and pain in the ankle, frequently accompanied by hungry feeling. Dual energy CT scans showed multiple small gouty stones in the posterior edge of the bilateral calcaneus and in the space between the bilateral metatarsophalangeal joints. The laboratory examination results indicated hyperlipidemia, high lactate lipids, and low fasting blood glucose. Histopathology of liver biopsy showed significant glycogen accumulation. The results of gene sequencing revealed the compound heterozygous mutations of the G6PC gene c.248G>A (p.Arg83His) and c.238T>A (p.Phe80Ile) in the proband. The c.248G>A mutation was from mother and the c.238T>A mutation was from father. The diagnosis of glycogen storage disease type Ⅰa was confirmed. After giving a high starch diet and limiting monosaccharide intake, as well as receiving uric acid and blood lipids lowering therapy, the condition of the patient was gradually stabilized. After a one-year follow-up, there were no acute episodes of gout and a significant improvement in hungry feeling in the patient.
