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

Medicine - 20 Mar 2026

Yuan Chuanjie, Liu Ying, Lyu Juanjuan, Sun Xiaomei, Wu Jin

Abstract excerpt

RATIONALE: Glycogen storage disease type Ia (GSD Ia) typically presents with fasting hypoglycemia and hyperlipidemia. Atypical infantile presentations can delay diagnosis. We report an infant with extreme hypertriglyceridemia ultimately diagnosed as GSD Ia. PATIENT CONCERNS: A 5-month-old girl presented with poor appetite, growth retardation, hepatomegaly, and extreme hypertriglyceridemia (72 mmol/L),...

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Identifiers

PMID: 41861207
DOI: 10.1097/MD.0000000000047959
PMCID: PMC13008168

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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