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An infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia

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Published/Copyright: May 21, 2020
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 33 Issue 6

Abstract

Background

Marked hypertriglyceridemia in infancy is extremely rare. Patients with severe hypertriglyceridemia in early life may be unmasked by a primary or secondary cause.

Case presentation

A female infant was born in a good condition with normal Apgar scores. No special clinical symptoms and signs had been found within the first two months of life. Poor oral intake and failure to thrive were two main clinical manifestations when she was referred to our hospital at the age of 3.5 months. The milky serum was the only one characteristic presentation. Laboratory testing showed extremely high level of triglycerides, cholesterol and lactate. Many other laboratory indexes cannot be detected because of severe hyperlipemic samples. Multi-gene panel testing for 249 genes about genetic and metabolic liver disease were performed. Gene analysis revealed a G6PC gene deficiency. The patient was a homozygote for c.248G > A, p.R83H and her parents were both the heterozygotes. The infant had been diagnosed as glycogen storage disease type Ia.

Conclusions

We report an infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia by genetic testing. The gene panel can be used to confirm the diagnosis and delineate the exact type of glycogen storage disease, which could ultimately really help to reduce unnecessary tests and invasive examinations. Serum lipid should be close monitoring in order to prevent the complications and improve the prognosis.

Keywords: glycogen storage disease; G6PC gene; hyperlipidemia; infant
Corresponding author: Kai-Yu Huang, Professor, Department of Pediatric Gastroenterology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, 109 Xueyuan Western Road, Wenzhou, Zhejiang Province, 325027, China, Phone: +86 577 88002177, Fax: +86 577 88832693, E-mail:

Funding source: Lin He's New Medicine and Clinical Translation Academician Workstation Research Fund

Award Identifier / Grant number: 17331210

Funding source: Wenzhou Municipal Science and Technology Bureau

Award Identifier / Grant number: Y20170135

  1. Research funding: Supported by Lin He’s New Medicine and Clinical Translation Academician Workstation Research Fund, No.17331210.

  2. Author contributions: Ling-Juan Fang collected the sample, analyzed the data and wrote the first graft of this paper; Kuerbanjiang Abuduxikuer, Xiu-Mei Yan and Huan Zhu collected the data and revised the draft; Kai-Yu Huang designed the research and approved the final paper to be published.

  3. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication

References

1. Bali DS, Chen YT, Austin S, Goldstein JL. Glycogen Storage Disease Type I. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReview. Seattle (WA): University of Washington, Seattle 1993−2017.Search in Google Scholar

2. Melis D, Cozzolino M, Minopoli G, Balivo F, Parini R, et al. Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study. J. Pediatr 2015;166:1079–82. https://doi.org/10.1016/j.jpeds.2014.12.015.Search in Google Scholar

3. de Ferranti SD, Crean S, Cotter J, Boyd D, Osganian SK. Hypertriglyceridemia in a pediatric referral practice: experience with 300 patients. Clin Pediatr (Phila) 2011;50:297–307. https://doi.org/10.1177/0009922810379498.Search in Google Scholar

4. Surendran RP, Visser ME, Heemelaar S, Wang J, Peter J, et al. Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. J Intern Med 2012;272:185–96. https://doi.org/10.1111/j.1365-2796.2012.02516.x.Search in Google Scholar

5. Hwu WL, Chuang SC, Tsai LP, Chang MH, Chuang SM, et al. Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia. Hum Mol Genet 1995;4:1095–6. https://doi.org/10.1093/hmg/4.10.2006.Search in Google Scholar

6. Chou JY, Mansfield BC. Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. Hum Mutat 2008;29:921–30. https://doi.org/10.1002/humu.20772.Search in Google Scholar

7. Scriver CR, Valle D, Beaudet L, Vogelstein B, Kinzler KW, et al. The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill Education.Search in Google Scholar

8. Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, et al. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 2002;161:S20–34. https://doi.org/10.1007/s00431-002-0999-4.Search in Google Scholar

9. Peeks F, Steunenberg TAH, de Boer F, Rubio-Gozalbo ME, Williams M, et al. Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control. J Inherit Metab Dis 2017;40:695–02. https://doi.org/10.1007/s10545-017-0039-1.Search in Google Scholar

10. Shah AS, Wilson DP. Primary hypertriglyceridemia in children and adolescents. J Clin Lipidol 2015;9:S20–28. https://doi.org/10.1016/j.jacl.2015.04.004.Search in Google Scholar

11. Blackett PR, Wilson DP, McNeal CJ. Secondary hypertriglyceridemia in children and adolescents. Clin Lipidol 2015;9:S29–40. https://doi.org/10.1016/j.jacl.2015.04.006.Search in Google Scholar

12. Leghi GE, Netting M, Muhlhausler BS. The short-term impact of dietary fat and sugar intake on breast milk composition: a clinical trial protocol. Nutr Health 2020;17:1–8. https://doi.org/10.1177/0260106019895367.Search in Google Scholar

13. Shin YS. Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. Semin Pediatr Neurol 2006;13:115–20. https://doi.org/10.1016/j.spen.2006.06.007.Search in Google Scholar

Received: 2019-08-18
Accepted: 2020-03-12
Published Online: 2020-05-21

© 2020 Walter de Gruyter GmbH, Berlin/Boston

Articles in the same Issue

  1. Frontmatter
  2. Original Articles
  3. Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population
  4. Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
  5. Institutional experience of newborn screening for inborn metabolism disorders by tandem MS in the Turkish population
  6. Investigation of the effect of epicardial adipose tissue thickness on cardiac conduction system in children with type 1 diabetes mellitus
  7. Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations
  8. Circulating chemerin level may be associated with early vascular pathology in obese children without overt arterial hypertension – preliminary results
  9. A novel diagnostic tool for the evaluation of hypothalamic-pituitary region and diagnosis of growth hormone deficiency: pons ratio
  10. Growth status of children and adolescents born small for gestational age at full term in Korea: data from the KNHANES-V
  11. Children with onset-ketoacidosis are admitted to the nearest hospital available, regardless of center size
  12. Evaluation of α-klotho level in insulin dependent diabetes mellitus (IDDM) children
  13. Evaluation of the relationship between the one-hour plasma glucose concentration and beta-cell functions and cardiometabolic parameters during oral glucose tolerance test in obese children and adolescents
  14. Triglycerides/high-density lipoprotein cholesterol is a predictor similar to the triglyceride–glucose index for the diagnosis of metabolic syndrome using International Diabetes Federation criteria of insulin resistance in obese adolescents: a cross-sectional study
  15. Rapid progressive central precocious puberty: diagnostic and predictive value of basal sex hormone levels and pelvic ultrasound
  16. Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients
  17. Case Reports
  18. An infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia
  19. A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome
  20. Isolated premature menarche in two siblings with Neurofibromatosis type 1
  21. GAD-65 autoantibody associated epilepsy
https://doi.org/10.1515/jpem-2019-0376
Keywords for this article
glycogen storage disease; G6PC gene; hyperlipidemia; infant

Articles in the same Issue

  1. Frontmatter
  2. Original Articles
  3. Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population
  4. Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
  5. Institutional experience of newborn screening for inborn metabolism disorders by tandem MS in the Turkish population
  6. Investigation of the effect of epicardial adipose tissue thickness on cardiac conduction system in children with type 1 diabetes mellitus
  7. Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations
  8. Circulating chemerin level may be associated with early vascular pathology in obese children without overt arterial hypertension – preliminary results
  9. A novel diagnostic tool for the evaluation of hypothalamic-pituitary region and diagnosis of growth hormone deficiency: pons ratio
  10. Growth status of children and adolescents born small for gestational age at full term in Korea: data from the KNHANES-V
  11. Children with onset-ketoacidosis are admitted to the nearest hospital available, regardless of center size
  12. Evaluation of α-klotho level in insulin dependent diabetes mellitus (IDDM) children
  13. Evaluation of the relationship between the one-hour plasma glucose concentration and beta-cell functions and cardiometabolic parameters during oral glucose tolerance test in obese children and adolescents
  14. Triglycerides/high-density lipoprotein cholesterol is a predictor similar to the triglyceride–glucose index for the diagnosis of metabolic syndrome using International Diabetes Federation criteria of insulin resistance in obese adolescents: a cross-sectional study
  15. Rapid progressive central precocious puberty: diagnostic and predictive value of basal sex hormone levels and pelvic ultrasound
  16. Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients
  17. Case Reports
  18. An infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia
  19. A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome
  20. Isolated premature menarche in two siblings with Neurofibromatosis type 1
  21. GAD-65 autoantibody associated epilepsy
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