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

GSD Ia should be considered in infantile extreme hypertriglyceridemia with growth retardation, even without classic hypoglycemia. Sustained metabolic control requires multidisciplinary strategies addressing both biochemical and adherence barriers.

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Publication Details

Journal
Medicine
Published
2026-03-20
DOI
https://doi.org/10.1097/md.0000000000047959
Primary Topic
Glycogen Storage Diseases and Myoclonus
Type
article
Field-Weighted Citation Impact
0.00
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article

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

John K. Wu, Chuanjie Yuan, Juanjuan Lyu, Xiaomei Sun et al.
Medicine
Glycogen Storage Diseases and Myoclonus
article

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

John K. Wu, Chuanjie Yuan, Juanjuan Lyu, Xiaomei Sun, Ying Liu
article en

Abstract

GSD Ia should be considered in infantile extreme hypertriglyceridemia with growth retardation, even without classic hypoglycemia. Sustained metabolic control requires multidisciplinary strategies addressing both biochemical and adherence barriers.

MedicineVol. 105(12)
Sichuan University (CN), West China Second University Hospital of Sichuan University (CN)
Zero hunger
Openalex Percentile: Top 13%
Glycogen Storage Diseases and Myoclonus
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