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March 22, 2026MedicineOpen Access

Infantile extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia: A case report

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Authors

CYChuanjie YuanYLYing LiuJLJuanjuan Lyu

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Overview

Case report identifies glycogen storage disease type Ia triggering extreme hypertriglyceridemia in an infant, suggesting prompt diagnosis is crucial.

Key Points

  • The aim was to highlight the atypical presentation of GSD Ia manifested as extreme hypertriglyceridemia in an infant.
  • Reported a case of a 5-month-old girl with poor appetite and growth retardation
  • Utilized whole-exome sequencing for diagnosis
  • Implemented lipid-lowering strategies including diet modifications and medications
  • Introduced cornstarch therapy post-diagnosis
  • Confirmed diagnosis of GSD Ia with G6PC mutations
  • Significant reductions in triglycerides after interventions
  • Normal fasting glucose levels achieved after structured therapy
  • Height Z-score improved significantly by 36 months

Cite This Study

Yuan et al. (2026) studied this question.

synapsesocial.com/papers/69bf89a9f665edcd009e98a3https://doi.org/10.1097/md.0000000000047959
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Glycogen storage disease type Ia complicated by gestational hypertriglyceridemic pancreatitis: A rare case report2025
  2. 2A case study of a liver transplant-treated patient with glycogen storage disease type Ia presenting with multiple inflammatory hepatic adenomas: an analysis of clinicopathologic and genetic data2024
  3. 3Pseudo-hypertriglyceridemia in a 2-year-old male with global developmental delay, myopathy and adrenal hypoplasia2024 · 3 citations
  4. 4Liver Transplantation as a Metabolic Treatment in Glycogen Storage Disease Type Ia2025
  5. 5A Case Report of Glycogen Storage Disorder Type IIIa in a Pediatric Patient: Clinical Approach and Molecular Diagnosis2026