Clinical and genetic features of patients with glycogen storage disease type Ⅸa: An analysis of 20 cases

Yuchuan LI; Yi LU; Jiayan FENG; Jianshe WANG

doi:10.3969/j.issn.1001-5256.2021.02.026

Volume 37 Issue 2

Mar. 2021

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Article Navigation > Journal of Clinical Hepatology > 2021 > 37(2): 380-384

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Clinical and genetic features of patients with glycogen storage disease type Ⅸa: An analysis of 20 cases

DOI: 10.3969/j.issn.1001-5256.2021.02.026

a.
Department of Hepatology, Children's Hospital of Fudan University, Shanghai 201102, China
b.
Department of Pathology, Children's Hospital of Fudan University, Shanghai 201102, China

Received Date: 2020-08-01
Accepted Date: 2020-10-28
Published Date: 2021-02-20

Abstract

Abstract

Objective To investigate the clinical and genetic features of patients with glycogen storage disease type Ⅸa (GSD Ⅸa), and to improve the clinical understanding of the disease. Methods A retrospective analysis was performed for the clinical data of 20 patients who were hospitalized and genetically diagnosed with GSD Ⅸa in Children's Hospital of Fudan University from January 2015 to December 2018, and their clinical and genetic features were summarized. Results All 20 patients with GSD Ⅸa were male, with a median age of 2.5 years at the time of confirmed diagnosis. All patients had hepatomegaly and elevated aminotransferases; of all patients, there were 5 patients (25.0%) with growth retardation, 19 (95.0%) with fasting hypoglycemia, 14 (70.0%) with hyperlactatemia, 9 (45.0%) with hypertriglyceridemia, and 5 (25.0%) with hypercholesterolemia. Fasting blood ketone was measured for 8 patients and all of these patients had an increase in blood ketone; all patients had normal uric acid, and 5 patients (25.0%) had positive urine ketone. Liver biopsy was performed for 18 patients, among whom 15 had mild to moderate liver fibrosis. A total of 16 mutations were detected in the PHKA2 gene, among which 5 were known pathogenic mutations and 11 were novel mutations, and most of the mutations were detected in the c.3614 locus. All patients were treated with uncooked cornstarch, and most patients achieved an improvement in clinical manifestations. Conclusion GSD Ⅸa is more common in male patients. This disease should be considered for patients with hepatomegaly, elevated aminotransferases, growth retardation, fasting hypoglycemia, elevated fasting blood ketone, and normal uric acid. Liver biopsy may help with the diagnosis of this disease, and clinical biochemical parameters and gene detection can be used to confirm diagnosis and classification. Most patients have mild clinical manifestations, while some patients may have liver fibrosis, and treatment with uncooked cornstarch can improve the condition of this disease.
- Glycogen Storage Disease,
- Pathological Conditions, Signs and Symptoms,
- Mutation

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Clinical and genetic features of patients with glycogen storage disease type Ⅸa: An analysis of 20 cases

DOI: 10.3969/j.issn.1001-5256.2021.02.026

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Clinical and genetic features of patients with glycogen storage disease type Ⅸa: An analysis of 20 cases

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