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

Ling-Juan Fang1, Kuerbanjiang Abuduxikuer2, Xiu-Mei Yan1

  • 1Department of Pediatric Gastroenterology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, 109 Xueyuan Western Road, Wenzhou, Zhejiang Province, China.

Journal of Pediatric Endocrinology & Metabolism : JPEM
|May 22, 2020
PubMed

Insights

Extremely high triglycerides in an infant were diagnosed as glycogen storage disease type Ia. Genetic testing confirmed the diagnosis, highlighting its importance for rare metabolic disorders.

Area of Science:

  • Pediatric Endocrinology
  • Metabolic Disorders
  • Clinical Genetics

Background:

  • Severe hypertriglyceridemia in infancy is exceptionally rare.
  • Infants with severe hypertriglyceridemia may present with underlying primary or secondary causes.
  • Early diagnosis is crucial for managing potential complications.

Observation:

  • A 3.5-month-old female infant presented with poor oral intake and failure to thrive.
  • Clinical presentation included milky serum, indicative of severe hyperlipidemia.
  • Laboratory tests revealed extremely high triglyceride, cholesterol, and lactate levels.

Findings:

  • Genetic analysis identified a G6PC gene deficiency, confirming glycogen storage disease type Ia (GSD Ia).
  • The patient was homozygous for the c.248G>A, p.R83H mutation.
  • Multi-gene panel testing proved effective in diagnosing this rare metabolic condition.

Implications:

  • Genetic testing is vital for accurate diagnosis and subtyping of glycogen storage diseases.
  • Early diagnosis and management of GSD Ia can prevent severe complications.
  • Close monitoring of serum lipids is essential for improving patient prognosis.

Keywords:
G6PC geneglycogen storage diseasehyperlipidemiainfant

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