ArticleBMC medical genetics2020
Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.
Article in BMC medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 15 citations in OpenAlex.
- Hepatic glycogen storage disease: Deciphering the genotype-phenotype conundrum.World journal of clinical pediatrics · 2025Article
- Cellular hierarchy framework based on single-cell/multi-patient sample sequencing reveals metabolic biomarker PYGL as a therapeutic target for HNSCC.Journal of experimental & clinical cancer research : CR · 2023Article
- Identification of glycogen phosphorylase L as a potential target for lung cancer.Medical oncology (Northwood, London, England) · 2023Article
- Integrated liver proteomics and metabolomics identify metabolic pathways affected by pantothenic acid deficiency in Pekin ducks.Animal nutrition (Zhongguo xu mu shou yi xue hui) · 2022Article
- miR-155-5p regulates hypoxia-induced pulmonary artery smooth muscle cell function by targeting PYGL.Bioengineered · 2022Article
- Features of chinese patients with sitosterolemia.Lipids in health and disease · 2022Review
- Hypoglycaemia Metabolic Gene Panel Testing.Frontiers in endocrinology · 2022Review
- Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases.Frontiers in genetics · 2022Article
- A Novel Model Based on Necroptosis-Related Genes for Predicting Prognosis of Patients With Prostate Adenocarcinoma.Frontiers in bioengineering and biotechnology · 2021Article
- Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi-Bickel Syndrome.Frontiers in genetics · 2020Article
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7 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundPYGL mutations can cause liver phosphorylase deficiency, resulting in a glycogenolysis disorder, namely, glycogen storage disease (GSD) VI. The disease is rarely reported in the Chinese population. GSD VI is mainly characterized in untreated children by hepatomegaly, growth retardation and elevated liver transaminases. CASE PRESENTATION: In this study, we report two GSD VI patients with growth retardation and abnormal liver function. There was no obvious hepatomegaly for one of them. Whole exome sequencing (WES) combined with copy number variation analysis was performed. We found a novel homozygous gross deletion, c.1621-258_2178-23del, including exons 14-17 of PYGL in patient 1. The exons 14-17 deletion of PYGL resulted in an in-frame deletion of 186 amino acids. Compound heterozygous mutations of PYGL were identified in patient 2, including a novel missense mutation c.1832C > T/p.A611V and a recurrent nonsense mutation c.280C > T/p.R94X. After treatment with uncooked cornstarch (UCS) 8 months for patient 1 and 13 months for patient 2, the liver transaminases of both patients decreased to a normal range and their stature was improved. However, patient 1 still showed mild hypertriglyceridemia.
conclusionsWe describe two GSD VI patients and expand the spectrum of PYGL mutations. Patient 1 in this study is the first GSD VI case that showed increased transaminases without obvious hepatomegaly due to a novel homozygous gross deletion of PYGL identified through WES.
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