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Glycogen Storage Disease Type I With Hypercalcemia in an Infant: A Case Report

Aziza Elouali1, Chaimae N'joumi1, Amal Bennani2

  • 1Department of Pediatrics, Faculty of Medicine and Pharmacy of Oujda, Mohammed First University, Oujda, MAR.

Cureus
|November 29, 2023
PubMed

Insights

Glycogen storage disease type I (GSDI) is a rare enzyme deficiency affecting blood glucose. This case highlights key symptoms like hypoglycemia, hepatomegaly, and hypercalcemia in infants, crucial for early diagnosis.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Glycogen storage disease type I (GSDI) results from glucose-6-phosphatase deficiency, impacting glucose regulation.
  • This enzyme deficiency leads to impaired gluconeogenesis and glycogenolysis, causing metabolic disturbances.

Observation:

  • A two-month-old infant presented with irritability, crying, and hyperventilation.
  • Physical examination revealed hepatomegaly and hypoglycemia.
  • Laboratory tests indicated elevated triglycerides, lactic acid, uric acid, and calcium levels.

Findings:

  • The patient was diagnosed with Glycogen storage disease type I (GSDI).
  • Key indicators included hypertriglyceridemia, hypoglycemia, and hepatomegaly.
  • Hypercalcemia was identified as a significant, previously unrecognized complication during an acute episode.

Implications:

  • Neonatologists and pediatricians should consider GSDI in infants presenting with hypoglycemia, hepatomegaly, and hypertriglyceridemia.
  • Hypercalcemia should be recognized as a potential complication during acute GSDI attacks.
  • Early diagnosis and management are crucial for preventing severe metabolic complications in GSDI patients.

Keywords:
case reportglycogen storage diseaseglycogen storage disease type ihypercalcemiahypertriglyceridemiametabolic decompensation

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