ArticleJournal of clinical lipidology
Glycogen storage disease type Ia: linkage of glucose, glycogen, lactic acid, triglyceride, and uric acid metabolism.
Article in Journal of clinical lipidology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- ApoC-III Antisense Oligonucleotide Therapy Used in Glycogen Storage Disease Type 1a.JACC. Case reports · 2026Article
- Infantile extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia: A case report.Medicine · 2026Article
- A Comprehensive Review of the Genetics of Dyslipidemias and Risk of Atherosclerotic Cardiovascular Disease.Nutrients · 2025Review
- Iron-Deficiency Anemia Elevates Risk of Diabetic Kidney Disease in Type 2 Diabetes Mellitus.Journal of diabetes · 2025Article
- mRNA vaccines in disease prevention and treatment.Signal transduction and targeted therapy · 2023Review
- Review
- A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia.Thyroid : official journal of the American Thyroid Association · 2019Article
- Delivery of mRNA Therapeutics for the Treatment of Hepatic Diseases.Molecular therapy : the journal of the American Society of Gene Therapy · 2019Review
- Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy.Journal of inherited metabolic disease · 2018Article
- Inhibition of Glycogen Synthase II with RNAi Prevents Liver Injury in Mouse Models of Glycogen Storage Diseases.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Article
- Crystal structure of lipid phosphatase Escherichia coli phosphatidylglycerophosphate phosphatase B.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- Hepatic glucose sensing and integrative pathways in the liver.Cellular and molecular life sciences : CMLS · 2014Review
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
A female presented in infancy with hypotonia, undetectable serum glucose, lactic acidosis, and triglycerides >5000 mg/dL. The diagnosis of type 1A glycogen storage disease was made via the result of a liver biopsy, which showed increased glycogen and absent glucose-6-phosphatase enzyme activity. The patient was treated with dextrose administered orally, which was replaced by frequent feedings of cornstarch, which resulted in an improvement of her metabolic parameters. At age 18 years of age, she had marked hypertriglyceridemia (3860 mg/dL) and eruptive xanthomas and was treated with fenofibrate, atorvastatin, and fish oil. At age 29 years she was noted to have multiple liver adenomas, severe anemia, and hyperuricemia. Aggressive cornstarch therapy was commenced with a goal of maintaining her blood glucose levels >75 mg/dL and lactate levels <2 mmol/L. After 15 months on this regimen, her lipids levels (measured in mg/dL) off all medications were as follows: total cholesterol 222, triglycerides 179, high-density lipoprotein cholesterol 32, and calculated low-density lipoprotein cholesterol 154. Her weight was stable with a body mass index of 24.8 kg/m(2). Her liver adenomas had decreased in size, and her anemia and hyperuricemia had improved. She was homozygous for the R83C missense mutation in G6PC. Our data indicate that optimized metabolic control to maintain blood glucose levels >75 mg/dL is critical in the management of this disease.
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Registered trials
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