ArticleOrphanet journal of rare diseases2020
Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Recent advances in research on the association between paediatric hyperuricaemia and bone health.Frontiers in endocrinology · 2026Pooled it
- Cardiovascular involvement in glycogen storage diseases.Nature reviews. Cardiology · 2026Review
- People and Families Affected by Glycogen Storage Disease Type Ia: An Analysis of Narrative Accounts Written by Individuals Living with GSDIa and Their Caregivers.Journal of health economics and outcomes research · 2025Article
- Diabetes in a Patient with Glycogen Storage Disease Type 1a.Internal medicine (Tokyo, Japan) · 2024Article
- Estimation of Health Utility Scores for Glycogen Storage Disease Type Ia.PharmacoEconomics - open · 2023Article
- A case of glycogen storage disease typeZhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Article
- NovelFrontiers in genetics · 2023Article
- Glycogen storage disease type 1a in the Ohio Amish.JIMD reports · 2022Article
- Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.Genetics research · 2022Article
- Prevalence and Complications of Glycogen Storage Disease in South Korea: A Nationwide Population-Based Study, 2007-2018.BioMed research international · 2022Article
- Case Report: Glycogen Storage Disease Type Ia in a Chinese Child Treated With Growth Hormone.Frontiers in pediatrics · 2022Article
- DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation inInternational journal of neonatal screening · 2021Article
- Glycogen Storage Disease Type Ia Screening Using Dried Blood Spots on Filter Paper: Application of COP-PCR for Detection of the c.648G>T G6PC Gene Mutation.The Kobe journal of medical sciences · 2021Article
- The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.Orphanet journal of rare diseases · 2020Article
- Molecular Diagnosis of Panel-Based Next-Generation Sequencing Approach and Clinical Symptoms in Patients With Glycogen Storage Disease: A Single Center Retrospective Study.Frontiers in pediatrics · 2020Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGlycogen storage disease (GSD) Ia, caused by mutations in the glucose-6-phosphatase (G6PC) gene, is characterized by hepatomegaly, hypoglycemia, lactic acidosis, dyslipidemia, and hyperuricemia. This study aimed to investigate clinical and molecular features and late complications in Korean patients with GSD Ia.
resultsFifty-four Korean patients (33 males and 21 females) from 47 unrelated families, who were diagnosed with GSD Ia, based on genetic and biochemical data, between 1999 and 2017, were included in this study. The median age at diagnosis was 3.9 years (range: 5 months to 42 years), and the follow-up period was 8.0 ± 6.8 years. Most patients presented with hepatomegaly during infancy, but hypoglycemic symptoms were not predominant. Genetic analysis showed that all the patients had at least one c.648G > T allele. Homozygous c.648G > T mutations in the G6PC gene were identified in 34 families (72.3%), and compound heterozygotes with c.648G > T were found in the other families. The allele frequency of c.648G > T was 86.2% (81/94), and p.F51S, p.R83H, p.G122D, p.Y128*, p.G222R, and p.T255A were identified. Of 26 adult patients, 14 had multiple hepatic adenomas, and two were diagnosed with hepatocellular carcinoma. Thirteen patients showed renal complications, and seven patients presented gout, despite preventive allopurinol treatment. Twelve patients had osteoporosis, and two patients had pulmonary hypertension. The final heights were 157.9 cm (standard deviation score: - 3.1) in males and 157.8 cm (standard deviation score: - 0.6) in females.
conclusionIn our Korean patients with GSD Ia, the most common mutation in the G6PC gene was c.648G > T, suggesting a founder effect. Because of only mild hypoglycemia, the patients tended to be diagnosed late. Thus, adult patients with GSD Ia eventually developed diverse and serious complications, which indicates a need for careful monitoring and proper management of this disease.
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