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

Chuanjie Yuan1,2, Ying Liu1,2, Juanjuan Lyu1,2

  • 1Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

Medicine
|March 20, 2026
PubMed

Insights

Glycogen storage disease type Ia (GSD Ia) can present with extreme hypertriglyceridemia in infants, not just hypoglycemia. Early diagnosis and consistent cornstarch therapy are crucial for metabolic control and growth in GSD Ia patients.

Area of Science:

  • Pediatric Endocrinology
  • Metabolic Disorders
  • Genetics

Background:

  • Glycogen storage disease type Ia (GSD Ia) typically presents with fasting hypoglycemia and hyperlipidemia.
  • Atypical infantile presentations, such as extreme hypertriglyceridemia, can delay diagnosis.
  • This case highlights an infant with severe hypertriglyceridemia ultimately diagnosed as GSD Ia.

Purpose of the Study:

  • To report an atypical infantile presentation of GSD Ia.
  • To emphasize the importance of considering GSD Ia in infants with unexplained extreme hypertriglyceridemia and growth retardation.
  • To discuss the challenges and strategies for achieving sustained metabolic control in GSD Ia.

Main Methods:

  • A 5-month-old girl presented with poor appetite, growth retardation, hepatomegaly, and extreme hypertriglyceridemia (72 mmol/L).
  • Whole-exome sequencing identified compound heterozygous G6PC mutations, confirming GSD Ia.
  • Management involved initial lipid-lowering therapies followed by a structured cornstarch regimen with frequent feeds and nocturnal nutrition.

Main Results:

  • Despite initial challenges with adherence, structured cornstarch therapy for 24 months normalized fasting glucose and significantly reduced triglyceride levels.
  • The patient experienced catch-up growth, with height Z-score improving from -3.9 to -2.2 by 36 months.
  • Metabolic control remained unstable until age 2, underscoring adherence issues.

Conclusions:

  • GSD Ia should be considered in infantile cases of extreme hypertriglyceridemia with growth retardation, even in the absence of classic hypoglycemia.
  • Sustained metabolic control in GSD Ia requires multidisciplinary strategies that address both biochemical abnormalities and patient adherence.
  • Early and accurate diagnosis, alongside consistent therapeutic interventions, is vital for improving outcomes in GSD Ia.
Abstract

Keywords:
glycogen storage diseasehypertriglyceridemiatype Ia

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